Linked Data
ClinVar Variation Id:
367599
ClinVar RCV Id:
RCV000397279
dbSNP Id:
rs561885351
gnomAD v2:
9-97863396-G-C
gnomAD v3:
9-95101114-G-C
gnomAD v4:
9-95101114-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95101114G>C , CM000671.2:g.95101114G>C | GRCh38 |
| NC_000009.11:g.97863396G>C , CM000671.1:g.97863396G>C | GRCh37 |
| NC_000009.10:g.96903217G>C | NCBI36 |
| NG_011707.1:g.221596C>G , LRG_497:g.221596C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+20334G>C (AOPEP) | ||
| ENST00000696260.1:n.3085C>G (FANCC) | ||
| ENST00000289081.8:c.*593C>G (FANCC) MANE Select | ENSP00000289081.3:n.*593C>G | |
| ENST00000375305.6:c.*593C>G (FANCC) | ENSP00000364454.1:n.*593C>G | |
| ENST00000289081.7:c.*593C>G (FANCC) | ENSP00000289081.3:n.*593C>G | |
| ENST00000375305.5:c.*593C>G (FANCC) | ENSP00000364454.1:n.*593C>G | |
| NM_000136.2:c.*593C>G , LRG_497t1:c.*593C>G (FANCC) | NP_000127.2:n.*593C>G | |
| NM_001243743.1:c.*593C>G (FANCC) | NP_001230672.1:n.*593C>G | |
| XM_011519121.1:c.2319+20334G>C (AOPEP) | XP_011517423.1:n.2319+20334G>C | |
| XM_005251802.3:c.*593C>G (FANCC) | XP_005251859.1:n.*593C>G | |
| XM_006717001.3:c.*593C>G (FANCC) | XP_006717064.1:n.*593C>G | |
| XM_011518365.3:c.*593C>G (FANCC) | XP_011516667.1:n.*593C>G | |
| XM_011518367.2:c.*593C>G (FANCC) | XP_011516669.1:n.*593C>G | |
| XM_011519121.3:c.2319+20334G>C (AOPEP) | XP_011517423.1:n.2319+20334G>C | |
| XM_017014452.2:c.*593C>G (FANCC) | XP_016869941.1:n.*593C>G | |
| XM_017014453.1:c.*593C>G (FANCC) | XP_016869942.1:n.*593C>G | |
| XM_017014454.1:c.*593C>G (FANCC) | XP_016869943.1:n.*593C>G | |
| XM_024447451.1:c.*593C>G (FANCC) | XP_024303219.1:n.*593C>G | |
| NM_000136.3:c.*593C>G (FANCC) MANE Select | NP_000127.2:n.*593C>G | |
| NM_001243743.2:c.*593C>G (FANCC) | NP_001230672.1:n.*593C>G |