Linked Data
ClinVar Variation Id:
12043
dbSNP Id:
rs104886458
ExAC:
9:97864005 A / G
gnomAD v2:
9-97864005-A-G
gnomAD v3:
9-95101723-A-G
gnomAD v4:
9-95101723-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95101723A>G , CM000671.2:g.95101723A>G | GRCh38 |
| NC_000009.11:g.97864005A>G , CM000671.1:g.97864005A>G | GRCh37 |
| NC_000009.10:g.96903826A>G | NCBI36 |
| NG_011707.1:g.220987T>C , LRG_497:g.220987T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710812.1:n.410+20943A>G (AOPEP) | ||
| ENST00000696260.1:n.2476T>C (FANCC) | ||
| ENST00000289081.8:c.1661T>C (FANCC) MANE Select | ENSP00000289081.3:p.Leu554Pro | |
| ENST00000375305.6:c.1661T>C (FANCC) | ENSP00000364454.1:p.Leu554Pro | |
| ENST00000649334.1:c.1806T>C (FANCC) | ENSP00000497735.1:n.1806T>C | |
| ENST00000289081.7:c.1661T>C (FANCC) | ENSP00000289081.3:p.Leu554Pro | |
| ENST00000375305.5:c.1661T>C (FANCC) | ENSP00000364454.1:p.Leu554Pro | |
| NM_000136.2:c.1661T>C , LRG_497t1:c.1661T>C (FANCC) | NP_000127.2:p.Leu554Pro | |
| NM_001243743.1:c.1661T>C (FANCC) | NP_001230672.1:p.Leu554Pro | |
| XM_005251802.2:c.980T>C (FANCC) | XP_005251859.1:p.Leu327Pro | |
| XM_006717001.1:c.1496T>C (FANCC) | XP_006717064.1:p.Leu499Pro | |
| XM_011518365.1:c.1661T>C (FANCC) | XP_011516667.1:p.Leu554Pro | |
| XM_011518367.1:c.1205T>C (FANCC) | XP_011516669.1:p.Leu402Pro | |
| XM_011519121.1:c.2319+20943A>G (AOPEP) | XP_011517423.1:n.2319+20943A>G | |
| XM_005251802.3:c.980T>C (FANCC) | XP_005251859.1:p.Leu327Pro | |
| XM_006717001.3:c.1496T>C (FANCC) | XP_006717064.1:p.Leu499Pro | |
| XM_011518365.3:c.1661T>C (FANCC) | XP_011516667.1:p.Leu554Pro | |
| XM_011518367.2:c.1205T>C (FANCC) | XP_011516669.1:p.Leu402Pro | |
| XM_011519121.3:c.2319+20943A>G (AOPEP) | XP_011517423.1:n.2319+20943A>G | |
| XM_017014452.2:c.1205T>C (FANCC) | XP_016869941.1:p.Leu402Pro | |
| XM_017014453.1:c.1205T>C (FANCC) | XP_016869942.1:p.Leu402Pro | |
| XM_017014454.1:c.1040T>C (FANCC) | XP_016869943.1:p.Leu347Pro | |
| XM_024447451.1:c.1661T>C (FANCC) | XP_024303219.1:p.Leu554Pro | |
| NM_000136.3:c.1661T>C (FANCC) MANE Select | NP_000127.2:p.Leu554Pro | |
| NM_001243743.2:c.1661T>C (FANCC) | NP_001230672.1:p.Leu554Pro |