Linked Data
ClinVar Variation Id:
367583
ClinVar RCV Id:
RCV000296908
dbSNP Id:
rs541816451
gnomAD v3:
9-95100191-T-C
gnomAD v4:
9-95100191-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95100191T>C , CM000671.2:g.95100191T>C | GRCh38 |
| NC_000009.11:g.97862473T>C , CM000671.1:g.97862473T>C | GRCh37 |
| NC_000009.10:g.96902294T>C | NCBI36 |
| NG_011707.1:g.222519A>G , LRG_497:g.222519A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+19411T>C (AOPEP) | ||
| ENST00000696260.1:n.4008A>G (FANCC) | ||
| ENST00000289081.8:c.*1516A>G (FANCC) MANE Select | ENSP00000289081.3:n.*1516A>G | |
| ENST00000375305.6:c.*1516A>G (FANCC) | ENSP00000364454.1:n.*1516A>G | |
| ENST00000289081.7:c.*1516A>G (FANCC) | ENSP00000289081.3:n.*1516A>G | |
| ENST00000375305.5:c.*1516A>G (FANCC) | ENSP00000364454.1:n.*1516A>G | |
| NM_000136.2:c.*1516A>G , LRG_497t1:c.*1516A>G (FANCC) | NP_000127.2:n.*1516A>G | |
| NM_001243743.1:c.*1516A>G (FANCC) | NP_001230672.1:n.*1516A>G | |
| XM_011519121.1:c.2319+19411T>C (AOPEP) | XP_011517423.1:n.2319+19411T>C | |
| XM_011519121.3:c.2319+19411T>C (AOPEP) | XP_011517423.1:n.2319+19411T>C | |
| NM_000136.3:c.*1516A>G (FANCC) MANE Select | NP_000127.2:n.*1516A>G | |
| NM_001243743.2:c.*1516A>G (FANCC) | NP_001230672.1:n.*1516A>G |