Linked Data
ClinVar Variation Id:
234476
dbSNP Id:
rs150941781
ExAC:
9:97873747 T / C
gnomAD v2:
9-97873747-T-C
gnomAD v3:
9-95111465-T-C
gnomAD v4:
9-95111465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95111465T>C , CM000671.2:g.95111465T>C | GRCh38 |
| NC_000009.11:g.97873747T>C , CM000671.1:g.97873747T>C | GRCh37 |
| NC_000009.10:g.96913568T>C | NCBI36 |
| NG_011707.1:g.211245A>G , LRG_497:g.211245A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+30685T>C (AOPEP) | ||
| ENST00000696260.1:n.2142A>G (FANCC) | ||
| ENST00000289081.8:c.1327A>G (FANCC) MANE Select | ENSP00000289081.3:p.Met443Val | |
| ENST00000375305.6:c.1327A>G (FANCC) | ENSP00000364454.1:p.Met443Val | |
| ENST00000490972.7:c.1327A>G (FANCC) | ENSP00000479931.1:p.Met443Val | |
| ENST00000649334.1:c.1472A>G (FANCC) | ENSP00000497735.1:n.1472A>G | |
| ENST00000289081.7:c.1327A>G (FANCC) | ENSP00000289081.3:p.Met443Val | |
| ENST00000375305.5:c.1327A>G (FANCC) | ENSP00000364454.1:p.Met443Val | |
| ENST00000464627.5:n.654A>G (FANCC) | ||
| ENST00000477942.5:n.682A>G (FANCC) | ||
| ENST00000480712.5:n.512A>G (FANCC) | ||
| ENST00000490972.6:c.1327A>G (FANCC) | ENSP00000479931.1:p.Met443Val | |
| NM_000136.2:c.1327A>G , LRG_497t1:c.1327A>G (FANCC) | NP_000127.2:p.Met443Val | |
| NM_001243743.1:c.1327A>G (FANCC) | NP_001230672.1:p.Met443Val | |
| NM_001243744.1:c.1327A>G (FANCC) | NP_001230673.1:p.Met443Val | |
| XM_005251802.2:c.646A>G (FANCC) | XP_005251859.1:p.Met216Val | |
| XM_006717001.1:c.1162A>G (FANCC) | XP_006717064.1:p.Met388Val | |
| XM_006717002.2:c.1327A>G (FANCC) | XP_006717065.1:p.Met443Val | |
| XM_011518365.1:c.1327A>G (FANCC) | XP_011516667.1:p.Met443Val | |
| XM_011518366.1:c.1327A>G (FANCC) | XP_011516668.1:p.Met443Val | |
| XM_011518367.1:c.871A>G (FANCC) | XP_011516669.1:p.Met291Val | |
| XM_011519121.1:c.2319+30685T>C (AOPEP) | XP_011517423.1:n.2319+30685T>C | |
| XM_005251802.3:c.646A>G (FANCC) | XP_005251859.1:p.Met216Val | |
| XM_006717001.3:c.1162A>G (FANCC) | XP_006717064.1:p.Met388Val | |
| XM_006717002.4:c.1327A>G (FANCC) | XP_006717065.1:p.Met443Val | |
| XM_011518365.3:c.1327A>G (FANCC) | XP_011516667.1:p.Met443Val | |
| XM_011518366.3:c.1327A>G (FANCC) | XP_011516668.1:p.Met443Val | |
| XM_011518367.2:c.871A>G (FANCC) | XP_011516669.1:p.Met291Val | |
| XM_011519121.3:c.2319+30685T>C (AOPEP) | XP_011517423.1:n.2319+30685T>C | |
| XM_017014452.2:c.871A>G (FANCC) | XP_016869941.1:p.Met291Val | |
| XM_017014453.1:c.871A>G (FANCC) | XP_016869942.1:p.Met291Val | |
| XM_017014454.1:c.706A>G (FANCC) | XP_016869943.1:p.Met236Val | |
| XM_024447451.1:c.1327A>G (FANCC) | XP_024303219.1:p.Met443Val | |
| NM_000136.3:c.1327A>G (FANCC) MANE Select | NP_000127.2:p.Met443Val | |
| NM_001243743.2:c.1327A>G (FANCC) | NP_001230672.1:p.Met443Val | |
| NM_001243744.2:c.1327A>G (FANCC) | NP_001230673.1:p.Met443Val |