Linked Data
ClinVar Variation Id:
1126330
ClinVar RCV Id:
RCV001458367
dbSNP Id:
rs1429537932
gnomAD v2:
9-97864028-C-T
gnomAD v3:
9-95101746-C-T
gnomAD v4:
9-95101746-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95101746C>T , CM000671.2:g.95101746C>T | GRCh38 |
| NC_000009.11:g.97864028C>T , CM000671.1:g.97864028C>T | GRCh37 |
| NC_000009.10:g.96903849C>T | NCBI36 |
| NG_011707.1:g.220964G>A , LRG_497:g.220964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+20966C>T (AOPEP) | ||
| ENST00000696260.1:n.2453G>A (FANCC) | ||
| ENST00000289081.8:c.1638G>A (FANCC) MANE Select | ENSP00000289081.3:p.Leu546= | |
| ENST00000375305.6:c.1638G>A (FANCC) | ENSP00000364454.1:p.Leu546= | |
| ENST00000649334.1:c.1783G>A (FANCC) | ENSP00000497735.1:n.1783G>A | |
| ENST00000289081.7:c.1638G>A (FANCC) | ENSP00000289081.3:p.Leu546= | |
| ENST00000375305.5:c.1638G>A (FANCC) | ENSP00000364454.1:p.Leu546= | |
| NM_000136.2:c.1638G>A , LRG_497t1:c.1638G>A (FANCC) | NP_000127.2:p.Leu546= | |
| NM_001243743.1:c.1638G>A (FANCC) | NP_001230672.1:p.Leu546= | |
| XM_005251802.2:c.957G>A (FANCC) | XP_005251859.1:p.Leu319= | |
| XM_006717001.1:c.1473G>A (FANCC) | XP_006717064.1:p.Leu491= | |
| XM_011518365.1:c.1638G>A (FANCC) | XP_011516667.1:p.Leu546= | |
| XM_011518367.1:c.1182G>A (FANCC) | XP_011516669.1:p.Leu394= | |
| XM_011519121.1:c.2319+20966C>T (AOPEP) | XP_011517423.1:n.2319+20966C>T | |
| XM_005251802.3:c.957G>A (FANCC) | XP_005251859.1:p.Leu319= | |
| XM_006717001.3:c.1473G>A (FANCC) | XP_006717064.1:p.Leu491= | |
| XM_011518365.3:c.1638G>A (FANCC) | XP_011516667.1:p.Leu546= | |
| XM_011518367.2:c.1182G>A (FANCC) | XP_011516669.1:p.Leu394= | |
| XM_011519121.3:c.2319+20966C>T (AOPEP) | XP_011517423.1:n.2319+20966C>T | |
| XM_017014452.2:c.1182G>A (FANCC) | XP_016869941.1:p.Leu394= | |
| XM_017014453.1:c.1182G>A (FANCC) | XP_016869942.1:p.Leu394= | |
| XM_017014454.1:c.1017G>A (FANCC) | XP_016869943.1:p.Leu339= | |
| XM_024447451.1:c.1638G>A (FANCC) | XP_024303219.1:p.Leu546= | |
| NM_000136.3:c.1638G>A (FANCC) MANE Select | NP_000127.2:p.Leu546= | |
| NM_001243743.2:c.1638G>A (FANCC) | NP_001230672.1:p.Leu546= |