Linked Data
dbSNP Id:
rs1472548228
gnomAD v2:
9-97873445-C-T
gnomAD v3:
9-95111163-C-T
gnomAD v4:
9-95111163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95111163C>T , CM000671.2:g.95111163C>T | GRCh38 |
| NC_000009.11:g.97873445C>T , CM000671.1:g.97873445C>T | GRCh37 |
| NC_000009.10:g.96913266C>T | NCBI36 |
| NG_011707.1:g.211547G>A , LRG_497:g.211547G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+30383C>T (AOPEP) | ||
| ENST00000696260.1:n.2144+300G>A (FANCC) | ||
| ENST00000289081.8:c.1329+300G>A (FANCC) MANE Select | ENSP00000289081.3:n.1329+300G>A | |
| ENST00000375305.6:c.1329+300G>A (FANCC) | ENSP00000364454.1:n.1329+300G>A | |
| ENST00000490972.7:c.*33G>A (FANCC) | ENSP00000479931.1:n.*33G>A | |
| ENST00000649334.1:c.1474+300G>A (FANCC) | ENSP00000497735.1:n.1474+300G>A | |
| ENST00000289081.7:c.1329+300G>A (FANCC) | ENSP00000289081.3:n.1329+300G>A | |
| ENST00000375305.5:c.1329+300G>A (FANCC) | ENSP00000364454.1:n.1329+300G>A | |
| ENST00000464627.5:n.656+300G>A (FANCC) | ||
| ENST00000477942.5:n.684+300G>A (FANCC) | ||
| ENST00000480712.5:n.514+300G>A (FANCC) | ||
| ENST00000490972.6:c.*33G>A (FANCC) | ENSP00000479931.1:n.*33G>A | |
| NM_000136.2:c.1329+300G>A , LRG_497t1:c.1329+300G>A (FANCC) | NP_000127.2:n.1329+300G>A | |
| NM_001243743.1:c.1329+300G>A (FANCC) | NP_001230672.1:n.1329+300G>A | |
| NM_001243744.1:c.*33G>A (FANCC) | NP_001230673.1:n.*33G>A | |
| XM_005251802.2:c.648+300G>A (FANCC) | XP_005251859.1:n.648+300G>A | |
| XM_006717001.1:c.1164+300G>A (FANCC) | XP_006717064.1:n.1164+300G>A | |
| XM_006717002.2:c.1329+300G>A (FANCC) | XP_006717065.1:n.1329+300G>A | |
| XM_011518365.1:c.1329+300G>A (FANCC) | XP_011516667.1:n.1329+300G>A | |
| XM_011518367.1:c.873+300G>A (FANCC) | XP_011516669.1:n.873+300G>A | |
| XM_011519121.1:c.2319+30383C>T (AOPEP) | XP_011517423.1:n.2319+30383C>T | |
| XM_005251802.3:c.648+300G>A (FANCC) | XP_005251859.1:n.648+300G>A | |
| XM_006717001.3:c.1164+300G>A (FANCC) | XP_006717064.1:n.1164+300G>A | |
| XM_006717002.4:c.1329+300G>A (FANCC) | XP_006717065.1:n.1329+300G>A | |
| XM_011518365.3:c.1329+300G>A (FANCC) | XP_011516667.1:n.1329+300G>A | |
| XM_011518366.3:c.*148G>A (FANCC) | XP_011516668.1:n.*148G>A | |
| XM_011518367.2:c.873+300G>A (FANCC) | XP_011516669.1:n.873+300G>A | |
| XM_011519121.3:c.2319+30383C>T (AOPEP) | XP_011517423.1:n.2319+30383C>T | |
| XM_017014452.2:c.873+300G>A (FANCC) | XP_016869941.1:n.873+300G>A | |
| XM_017014453.1:c.873+300G>A (FANCC) | XP_016869942.1:n.873+300G>A | |
| XM_017014454.1:c.708+300G>A (FANCC) | XP_016869943.1:n.708+300G>A | |
| XM_024447451.1:c.1329+300G>A (FANCC) | XP_024303219.1:n.1329+300G>A | |
| NM_000136.3:c.1329+300G>A (FANCC) MANE Select | NP_000127.2:n.1329+300G>A | |
| NM_001243743.2:c.1329+300G>A (FANCC) | NP_001230672.1:n.1329+300G>A | |
| NM_001243744.2:c.*33G>A (FANCC) | NP_001230673.1:n.*33G>A |