Linked Data
ClinVar Variation Id:
1431359
dbSNP Id:
rs766086120
ExAC:
9:97873856 C / G
gnomAD v2:
9-97873856-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95111574C>G , CM000671.2:g.95111574C>G | GRCh38 |
| NC_000009.11:g.97873856C>G , CM000671.1:g.97873856C>G | GRCh37 |
| NC_000009.10:g.96913677C>G | NCBI36 |
| NG_011707.1:g.211136G>C , LRG_497:g.211136G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+30794C>G (AOPEP) | ||
| ENST00000696260.1:n.2033G>C (FANCC) | ||
| ENST00000289081.8:c.1218G>C (FANCC) MANE Select | ENSP00000289081.3:p.Met406Ile | |
| ENST00000375305.6:c.1218G>C (FANCC) | ENSP00000364454.1:p.Met406Ile | |
| ENST00000490972.7:c.1218G>C (FANCC) | ENSP00000479931.1:p.Met406Ile | |
| ENST00000649334.1:c.1363G>C (FANCC) | ENSP00000497735.1:n.1363G>C | |
| ENST00000289081.7:c.1218G>C (FANCC) | ENSP00000289081.3:p.Met406Ile | |
| ENST00000375305.5:c.1218G>C (FANCC) | ENSP00000364454.1:p.Met406Ile | |
| ENST00000464627.5:n.545G>C (FANCC) | ||
| ENST00000477942.5:n.573G>C (FANCC) | ||
| ENST00000480712.5:n.403G>C (FANCC) | ||
| ENST00000490972.6:c.1218G>C (FANCC) | ENSP00000479931.1:p.Met406Ile | |
| NM_000136.2:c.1218G>C , LRG_497t1:c.1218G>C (FANCC) | NP_000127.2:p.Met406Ile | |
| NM_001243743.1:c.1218G>C (FANCC) | NP_001230672.1:p.Met406Ile | |
| NM_001243744.1:c.1218G>C (FANCC) | NP_001230673.1:p.Met406Ile | |
| XM_005251802.2:c.537G>C (FANCC) | XP_005251859.1:p.Met179Ile | |
| XM_006717001.1:c.1053G>C (FANCC) | XP_006717064.1:p.Met351Ile | |
| XM_006717002.2:c.1218G>C (FANCC) | XP_006717065.1:p.Met406Ile | |
| XM_006717004.2:c.*113G>C (FANCC) | XP_006717067.1:n.*113G>C | |
| XM_011518365.1:c.1218G>C (FANCC) | XP_011516667.1:p.Met406Ile | |
| XM_011518366.1:c.1218G>C (FANCC) | XP_011516668.1:p.Met406Ile | |
| XM_011518367.1:c.762G>C (FANCC) | XP_011516669.1:p.Met254Ile | |
| XM_011519121.1:c.2319+30794C>G (AOPEP) | XP_011517423.1:n.2319+30794C>G | |
| XM_005251802.3:c.537G>C (FANCC) | XP_005251859.1:p.Met179Ile | |
| XM_006717001.3:c.1053G>C (FANCC) | XP_006717064.1:p.Met351Ile | |
| XM_006717002.4:c.1218G>C (FANCC) | XP_006717065.1:p.Met406Ile | |
| XM_006717004.4:c.*113G>C (FANCC) | XP_006717067.1:n.*113G>C | |
| XM_011518365.3:c.1218G>C (FANCC) | XP_011516667.1:p.Met406Ile | |
| XM_011518366.3:c.1218G>C (FANCC) | XP_011516668.1:p.Met406Ile | |
| XM_011518367.2:c.762G>C (FANCC) | XP_011516669.1:p.Met254Ile | |
| XM_011519121.3:c.2319+30794C>G (AOPEP) | XP_011517423.1:n.2319+30794C>G | |
| XM_017014452.2:c.762G>C (FANCC) | XP_016869941.1:p.Met254Ile | |
| XM_017014453.1:c.762G>C (FANCC) | XP_016869942.1:p.Met254Ile | |
| XM_017014454.1:c.597G>C (FANCC) | XP_016869943.1:p.Met199Ile | |
| XM_024447451.1:c.1218G>C (FANCC) | XP_024303219.1:p.Met406Ile | |
| NM_000136.3:c.1218G>C (FANCC) MANE Select | NP_000127.2:p.Met406Ile | |
| NM_001243743.2:c.1218G>C (FANCC) | NP_001230672.1:p.Met406Ile | |
| NM_001243744.2:c.1218G>C (FANCC) | NP_001230673.1:p.Met406Ile |