Linked Data
ClinVar Variation Id:
12044
dbSNP Id:
rs121917783
ExAC:
9:97912338 G / A
gnomAD v2:
9-97912338-G-A
gnomAD v3:
9-95150056-G-A
gnomAD v4:
9-95150056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95150056G>A , CM000671.2:g.95150056G>A | GRCh38 |
| NC_000009.11:g.97912338G>A , CM000671.1:g.97912338G>A | GRCh37 |
| NC_000009.10:g.96952159G>A | NCBI36 |
| NG_011707.1:g.172654C>T , LRG_497:g.172654C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710812.1:n.3256G>A (AOPEP) | ||
| ENST00000696261.1:n.944C>T (FANCC) | ||
| ENST00000289081.8:c.553C>T (FANCC) MANE Select | ENSP00000289081.3:p.Arg185Ter | |
| ENST00000375305.6:c.553C>T (FANCC) | ENSP00000364454.1:p.Arg185Ter | |
| ENST00000490972.7:c.553C>T (FANCC) | ENSP00000479931.1:p.Arg185Ter | |
| ENST00000636777.1:n.611C>T (FANCC) | ||
| ENST00000649334.1:c.698C>T (FANCC) | ENSP00000497735.1:n.698C>T | |
| ENST00000649701.1:n.268C>T (FANCC) | ||
| ENST00000289081.7:c.553C>T (FANCC) | ENSP00000289081.3:p.Arg185Ter | |
| ENST00000375305.5:c.553C>T (FANCC) | ENSP00000364454.1:p.Arg185Ter | |
| ENST00000490972.6:c.553C>T (FANCC) | ENSP00000479931.1:p.Arg185Ter | |
| NM_000136.2:c.553C>T , LRG_497t1:c.553C>T (FANCC) | NP_000127.2:p.Arg185Ter | |
| NM_001243743.1:c.553C>T (FANCC) | NP_001230672.1:p.Arg185Ter | |
| NM_001243744.1:c.553C>T (FANCC) | NP_001230673.1:p.Arg185Ter | |
| XM_006717001.1:c.522-14554C>T (FANCC) | XP_006717064.1:n.522-14554C>T | |
| XM_006717002.2:c.553C>T (FANCC) | XP_006717065.1:p.Arg185Ter | |
| XM_006717004.2:c.553C>T (FANCC) | XP_006717067.1:p.Arg185Ter | |
| XM_011518365.1:c.553C>T (FANCC) | XP_011516667.1:p.Arg185Ter | |
| XM_011518366.1:c.553C>T (FANCC) | XP_011516668.1:p.Arg185Ter | |
| XM_011518367.1:c.97C>T (FANCC) | XP_011516669.1:p.Arg33Ter | |
| XM_006717001.3:c.522-14554C>T (FANCC) | XP_006717064.1:n.522-14554C>T | |
| XM_006717002.4:c.553C>T (FANCC) | XP_006717065.1:p.Arg185Ter | |
| XM_006717004.4:c.553C>T (FANCC) | XP_006717067.1:p.Arg185Ter | |
| XM_011518365.3:c.553C>T (FANCC) | XP_011516667.1:p.Arg185Ter | |
| XM_011518366.3:c.553C>T (FANCC) | XP_011516668.1:p.Arg185Ter | |
| XM_011518367.2:c.97C>T (FANCC) | XP_011516669.1:p.Arg33Ter | |
| XM_017014452.2:c.97C>T (FANCC) | XP_016869941.1:p.Arg33Ter | |
| XM_017014453.1:c.97C>T (FANCC) | XP_016869942.1:p.Arg33Ter | |
| XM_017014454.1:c.66-14554C>T (FANCC) | XP_016869943.1:n.66-14554C>T | |
| XM_024447451.1:c.553C>T (FANCC) | XP_024303219.1:p.Arg185Ter | |
| NM_000136.3:c.553C>T (FANCC) MANE Select | NP_000127.2:p.Arg185Ter | |
| NM_001243743.2:c.553C>T (FANCC) | NP_001230672.1:p.Arg185Ter | |
| NM_001243744.2:c.553C>T (FANCC) | NP_001230673.1:p.Arg185Ter |