CIViC Variants
1951 variants indexed
Variant Types
Sequence Ontology (SO) terms describing the molecular consequence of each variant, as curated in CIViC. Hover a bar for the definition.
| CIViC ID | Gene | Variant | HGVS | Type(s) |
|---|---|---|---|---|
| 263 | ABCB1 | I1145I T3435C,RS1045642,3435C-T,ILE1145= | NM_000927.4:c.3435T>C,NP_000918.2:p.Ile1145=,NC_000007.13:g.87138645A>G,ENST00000265724.3:c.3435T>C | synonymous_variant |
| 2915 | ABCB1 | Overexpression | ||
| 451 | ABCB1 | S893A/T RS2032582 | NC_000007.13:g.87160618A>C | missense_variant |
| 262 | ABCB1 | S893T A893S,SER893THR,RS2032582 | NM_000927.4:c.2677T>A,NP_000918.2:p.Ser893Thr,NC_000007.13:g.87160618A>T,ENST00000265724.3:c.2677T>A | missense_variant |
| 408 | ABCC10 | Overexpression | ||
| 407 | ABCC3 | Amplification | transcript_amplification | |
| 260 | ABCG2 | Q141K GLN141LYS,RS2231142 | NC_000004.11:g.89052323G>T,NM_004827.2:c.421C>A,NP_004818.2:p.Gln141Lys,ENST00000237612.3:c.421C>A | missense_variant |
| 4636 | ABL1 | A397P A416P,ALA397PRO | ENST00000318560.5:c.1189G>C,NC_000009.11:g.133750358G>C,NM_005157.5:c.1189G>C,NP_005148.2:p.Ala397Pro | missense_variant |
| 1639 | ABL1 | C475V CYS475VAL | ENST00000318560.5:c.1423_1424delinsGT,NC_000009.11:g.133753954_133755455delinsGT,NM_005157.6:c.1423_1424delinsGT | splice_donor_variant |
| 4218 | ABL1 | D276G RS121913447,ASP276GLY,D295G | ENST00000318560.5:c.827A>G,NP_005148.2:p.Asp276Gly,NM_005157.5:c.827A>G,NC_000009.11:g.133747520A>G | missense_variant |
| 4637 | ABL1 | D363G Asp363Gly | missense_variant | |
| 4638 | ABL1 | D421G ASP421GLY | missense_variant | |
| 3009 | ABL1 | Double Ph DOUBLE PHILADELPHIA CHROMOSOME | ||
| 3 | ABL1 | E255K E274K,RS121913448 | NC_000009.11:g.133738363G>A,NM_005157.5:c.763G>A,NP_005148.2:p.Glu255Lys,ENST00000318560.5:c.763G>A | missense_variant |
| 4606 | ABL1 | E255V RS121913449,GLU255VAL | NM_005157.5:c.764A>T,NP_005148.2:p.Glu255Val,NC_000009.11:g.133738364A>T,ENST00000318560.5:c.764A>T | missense_variant |
| 1526 | ABL1 | E279K GLU279LYS,E298K | ENST00000318560.5:c.835G>A,NC_000009.11:g.133747528G>A,NM_005157.5:c.835G>A,NP_005148.2:p.Glu279Lys | missense_variant |
| 2887 | ABL1 | E292L GLY292LEU | missense_variant | |
| 1183 | ABL1 | E292V E311V,GLU311VAL,GLU292VAL | ENST00000318560.5:c.875A>T,NC_000009.11:g.133747568A>T,NM_005157.5:c.875A>T,NP_005148.2:p.Glu292Val | missense_variant |
| 4609 | ABL1 | E355G RS121913450,GLU355GLY | NM_005157.5:c.1064A>G,NP_005148.2:p.Glu355Gly,NC_000009.11:g.133748403A>G,ENST00000318560.5:c.1064A>G | missense_variant |
| 1618 | ABL1 | E450Q E469Q,GLU450GLN | ENST00000318560.5:c.1348G>C,NC_000009.11:g.133753879G>C,NM_005157.5:c.1348G>C,NP_005148.2:p.Glu450Gln | missense_variant |
| 1534 | ABL1 | E450V E469V,GLU450VAL | ENST00000318560.5:c.1349A>T,NC_000009.11:g.133753880A>T,NM_005157.5:c.1349A>T,NP_005148.2:p.Glu450Val | missense_variant |
| 1536 | ABL1 | E453A E472A,GLU453ALA | ENST00000318560.5:c.1358A>C,NC_000009.11:g.133753889A>C,NM_005157.5:c.1358A>C,NP_005148.2:p.Glu453Ala | missense_variant |
| 1535 | ABL1 | E453K E472K,GLU453LYS | ENST00000318560.5:c.1357G>A,NC_000009.11:g.133753888G>A,NM_005157.5:c.1357G>A,NP_005148.2:p.Glu453Lys | missense_variant |
| 1509 | ABL1 | E453Q E472Q,GLU453GLN | ENST00000318560.5:c.1357G>C,NC_000009.11:g.133753888G>C,NM_005157.5:c.1357G>C,NP_005148.2:p.Glu453Gln | missense_variant |
| 2370 | ABL1 | E459K RS1064156,GLU459LYS | ENST00000318560.5:c.1375G>A,NC_000009.11:g.133753906G>A,NM_005157.5:c.1375G>A,NP_005148.2:p.Glu459Lys | missense_variant |
| 2901 | ABL1 | E98G GLU98GLY | missense_variant | |
| 1507 | ABL1 | F311I F330I,RS137853304 | ENST00000318560.5:c.931T>A,NC_000009.11:g.133748270T>A,NM_005157.5:c.931T>A,NP_005148.2:p.Phe311Ile | missense_variant |
| 1528 | ABL1 | F311L RS137853304,F330L,PHE311LEU | NM_005157.5:c.931T>C,NP_005148.2:p.Phe311Leu,NC_000009.11:g.133748270T>C,ENST00000318560.5:c.931T>C | missense_variant |
| 2359 | ABL1 | F317C PHE317CYS,F336C,RS1057519774 | ENST00000318560:c.950T>G,NC_000009.11:g.133748289T>G,NM_005157.6:c.950T>G,NP_005148.2:p.Phe317Cys | missense_variant |
| 1625 | ABL1 | F317I F336I,RS1057519773,PHE317ILE | NM_005157.5:c.949T>A,NP_005148.2:p.Phe317Ile,NC_000009.11:g.133748288T>A,ENST00000318560.5:c.949T>A | missense_variant |
| 1028 | ABL1 | F317L RS121913451,F336L,PHE317LEU,RS1057519773 | NM_005157.5:c.951C>G,NP_005148.2:p.Phe317Leu,NC_000009.11:g.133748290C>G,ENST00000318560.5:c.951C>G,NC_000009.11:g.133748288T>C,NM_005157.5:c.949T>C,ENST00000318560.5:c.949T>C | missense_variant |
| 2888 | ABL1 | F317R PHE317ARG | missense_variant | |
| 2343 | ABL1 | F317S PHE317SER | ENST00000318560.5:c.950T>C,NC_000009.11:g.133748289T>C,NM_005157.6:c.950T>C,NP_005148.2:p.Phe317Ser | missense_variant |
| 1525 | ABL1 | F317V F336V,RS1057519773 | NM_005157.5:c.949T>G,NP_005148.2:p.Phe317Val,NC_000009.11:g.133748288T>G,ENST00000318560.5:c.949T>G | missense_variant |
| 4610 | ABL1 | F359C RS1057519775,F378C,PHE359CYS | NM_005157.5:c.1076T>G,NP_005148.2:p.Phe359Cys,NC_000009.11:g.133748415T>G,ENST00000318560.5:c.1076T>G | missense_variant |
| 4607 | ABL1 | F359I RS121913452,F378I,PHE359ILE | NM_005157.5:c.1075T>A,NP_005148.2:p.Phe359Ile,NC_000009.11:g.133748414T>A,ENST00000318560.5:c.1075T>A | missense_variant |
| 4598 | ABL1 | F359V RS121913452 | NM_005157.5:c.1075T>G,NP_005148.2:p.Phe359Val,NC_000009.11:g.133748414T>G,NST00000318560.5:c.1075T>G | missense_variant |
| 4635 | ABL1 | F486S PHE486SER,F505S | ENST00000318560.5:c.1457T>C,NC_000009.11:g.133755488T>C,NM_005157.5:c.1457T>C,NP_005148.2:p.Phe486Ser | missense_variant |
| 1023 | ABL1 | G250E RS121913453,GLY250GLU | NM_005157.5:c.749G>A,NP_005148.2:p.Gly250Glu,NC_000009.11:g.133738349G>A,ENST00000318560.5:c.749G>A | missense_variant |
| 1657 | ABL1 | G340L GLY340LEU,Gly321Leu,G321L | NC_000009.12:g.130872913_130872914delinsCT,NC_000009.11:g.133748300_133748301delinsCT,NM_005157.6:c.961_962delinsCT,ENST00000318560.6:c.961_962delinsCT,NP_005148.2:p.Gly321Leu,ENSP00000323315.5:p.Gly321Leu | coding_sequence_variant |
| 1233 | ABL1 | G398R G417R,GLY398ARG,GLY417ARG | ENST00000318560.5:c.1192G>C,NC_000009.11:g.133750361G>C,NM_005157.5:c.1192G>C,NP_005148.2:p.Gly398Arg | missense_variant |
| 1531 | ABL1 | H396P HIS396PRO,H415P | ENST00000318560.5:c.1187A>C,NC_000009.11:g.133750356A>C,NM_005157.5:c.1187A>C,NP_005148.2:p.His396Pro | missense_variant |
| 4611 | ABL1 | H396R RS121913454,HIS396ARG | NM_005157.5:c.1187A>G,NP_005148.2:p.His396Arg,NC_000009.11:g.133750356A>G,ENST00000318560.5:c.1187A>G | missense_variant |
| 2340 | ABL1 | L248R LEU248ARG | ENST00000318560.5:c.743T>G,NC_000009.11:g.133738343T>G,NM_005157.6:c.743T>G,NP_005148.2:p.Leu248Arg | missense_variant |
| 4632 | ABL1 | L248V RS121913455,LEU248VAL,L267V | NM_005157.5:c.742C>G,NP_005148.2:p.Leu248Val,NC_000009.11:g.133738342C>G,ENST00000318560.5:c.742C>G | missense_variant |
| 1506 | ABL1 | L298V L317V,LEU298VAL | ENST00000318560.5:c.892C>G,NC_000009.11:g.133747585C>G,NM_005157.5:c.892C>G,NP_005148.2:p.Leu298Val | missense_variant |
| 1508 | ABL1 | L364I L383I,LEU364ILE | ENST00000318560.5:c.1090C>A,NC_000009.11:g.133750259C>A,NM_005157.5:c.1090C>A,NP_005148.2:p.Leu364Ile | missense_variant |
| 1530 | ABL1 | L364P L383P,LEU364PRO,LEU383PRO | ENST00000318560.5:c.1091T>C,NC_000009.11:g.133750260T>C,NM_005157.5:c.1091T>C,NP_005148.2:p.Leu364Pro | missense_variant |
| 1230 | ABL1 | L384M L403M,LEU403MET,LEU384MET | ENST00000318560.5:c.1150C>A,NC_000009.11:g.133750319C>A,NM_005157.5:c.1150C>A,NP_005148.2:p.Leu384Met | missense_variant |
| 1232 | ABL1 | L387F L406F,LEU406PHE,LEU387PHE | ENST00000318560.5:c.1161G>C,NC_000009.11:g.133750330G>C,NM_005157.5:c.1161G>C,NP_005148.2:p.Leu387Phe | missense_variant |