Linked Data
ClinVar Variation Id:
182477
dbSNP Id:
rs730881717
ExAC:
9:97897679 A / C
gnomAD v2:
9-97897679-A-C
gnomAD v3:
9-95135397-A-C
gnomAD v4:
9-95135397-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95135397A>C , CM000671.2:g.95135397A>C | GRCh38 |
| NC_000009.11:g.97897679A>C , CM000671.1:g.97897679A>C | GRCh37 |
| NC_000009.10:g.96937500A>C | NCBI36 |
| NG_011707.1:g.187313T>G , LRG_497:g.187313T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.411-11814A>C (AOPEP) | ||
| ENST00000696261.1:n.1183T>G (FANCC) | ||
| ENST00000289081.8:c.792T>G (FANCC) MANE Select | ENSP00000289081.3:p.Ser264Arg | |
| ENST00000375305.6:c.792T>G (FANCC) | ENSP00000364454.1:p.Ser264Arg | |
| ENST00000490972.7:c.792T>G (FANCC) | ENSP00000479931.1:p.Ser264Arg | |
| ENST00000649334.1:c.937T>G (FANCC) | ENSP00000497735.1:n.937T>G | |
| ENST00000649701.1:n.507T>G (FANCC) | ||
| ENST00000289081.7:c.792T>G (FANCC) | ENSP00000289081.3:p.Ser264Arg | |
| ENST00000375305.5:c.792T>G (FANCC) | ENSP00000364454.1:p.Ser264Arg | |
| ENST00000477942.5:n.147T>G (FANCC) | ||
| ENST00000490972.6:c.792T>G (FANCC) | ENSP00000479931.1:p.Ser264Arg | |
| NM_000136.2:c.792T>G , LRG_497t1:c.792T>G (FANCC) | NP_000127.2:p.Ser264Arg | |
| NM_001243743.1:c.792T>G (FANCC) | NP_001230672.1:p.Ser264Arg | |
| NM_001243744.1:c.792T>G (FANCC) | NP_001230673.1:p.Ser264Arg | |
| XM_005251802.2:c.111T>G (FANCC) | XP_005251859.1:p.Ser37Arg | |
| XM_006717001.1:c.627T>G (FANCC) | XP_006717064.1:p.Ser209Arg | |
| XM_006717002.2:c.792T>G (FANCC) | XP_006717065.1:p.Ser264Arg | |
| XM_006717004.2:c.792T>G (FANCC) | XP_006717067.1:p.Ser264Arg | |
| XM_011518365.1:c.792T>G (FANCC) | XP_011516667.1:p.Ser264Arg | |
| XM_011518366.1:c.792T>G (FANCC) | XP_011516668.1:p.Ser264Arg | |
| XM_011518367.1:c.336T>G (FANCC) | XP_011516669.1:p.Ser112Arg | |
| XM_011519121.1:c.2320-11814A>C (AOPEP) | XP_011517423.1:n.2320-11814A>C | |
| XM_005251802.3:c.111T>G (FANCC) | XP_005251859.1:p.Ser37Arg | |
| XM_006717001.3:c.627T>G (FANCC) | XP_006717064.1:p.Ser209Arg | |
| XM_006717002.4:c.792T>G (FANCC) | XP_006717065.1:p.Ser264Arg | |
| XM_006717004.4:c.792T>G (FANCC) | XP_006717067.1:p.Ser264Arg | |
| XM_011518365.3:c.792T>G (FANCC) | XP_011516667.1:p.Ser264Arg | |
| XM_011518366.3:c.792T>G (FANCC) | XP_011516668.1:p.Ser264Arg | |
| XM_011518367.2:c.336T>G (FANCC) | XP_011516669.1:p.Ser112Arg | |
| XM_011519121.3:c.2320-11814A>C (AOPEP) | XP_011517423.1:n.2320-11814A>C | |
| XM_017014452.2:c.336T>G (FANCC) | XP_016869941.1:p.Ser112Arg | |
| XM_017014453.1:c.336T>G (FANCC) | XP_016869942.1:p.Ser112Arg | |
| XM_017014454.1:c.171T>G (FANCC) | XP_016869943.1:p.Ser57Arg | |
| XM_024447451.1:c.792T>G (FANCC) | XP_024303219.1:p.Ser264Arg | |
| NM_000136.3:c.792T>G (FANCC) MANE Select | NP_000127.2:p.Ser264Arg | |
| NM_001243743.2:c.792T>G (FANCC) | NP_001230672.1:p.Ser264Arg | |
| NM_001243744.2:c.792T>G (FANCC) | NP_001230673.1:p.Ser264Arg |