Linked Data
ClinVar Variation Id:
1745200
ClinVar RCV Id:
RCV002335875
dbSNP Id:
rs755659975
ExAC:
9:97873882 T / C
gnomAD v2:
9-97873882-T-C
gnomAD v4:
9-95111600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95111600T>C , CM000671.2:g.95111600T>C | GRCh38 |
| NC_000009.11:g.97873882T>C , CM000671.1:g.97873882T>C | GRCh37 |
| NC_000009.10:g.96913703T>C | NCBI36 |
| NG_011707.1:g.211110A>G , LRG_497:g.211110A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+30820T>C (AOPEP) | ||
| ENST00000696260.1:n.2007A>G (FANCC) | ||
| ENST00000289081.8:c.1192A>G (FANCC) MANE Select | ENSP00000289081.3:p.Ile398Val | |
| ENST00000375305.6:c.1192A>G (FANCC) | ENSP00000364454.1:p.Ile398Val | |
| ENST00000490972.7:c.1192A>G (FANCC) | ENSP00000479931.1:p.Ile398Val | |
| ENST00000649334.1:c.1337A>G (FANCC) | ENSP00000497735.1:n.1337A>G | |
| ENST00000289081.7:c.1192A>G (FANCC) | ENSP00000289081.3:p.Ile398Val | |
| ENST00000375305.5:c.1192A>G (FANCC) | ENSP00000364454.1:p.Ile398Val | |
| ENST00000464627.5:n.519A>G (FANCC) | ||
| ENST00000477942.5:n.547A>G (FANCC) | ||
| ENST00000480712.5:n.377A>G (FANCC) | ||
| ENST00000490972.6:c.1192A>G (FANCC) | ENSP00000479931.1:p.Ile398Val | |
| NM_000136.2:c.1192A>G , LRG_497t1:c.1192A>G (FANCC) | NP_000127.2:p.Ile398Val | |
| NM_001243743.1:c.1192A>G (FANCC) | NP_001230672.1:p.Ile398Val | |
| NM_001243744.1:c.1192A>G (FANCC) | NP_001230673.1:p.Ile398Val | |
| XM_005251802.2:c.511A>G (FANCC) | XP_005251859.1:p.Ile171Val | |
| XM_006717001.1:c.1027A>G (FANCC) | XP_006717064.1:p.Ile343Val | |
| XM_006717002.2:c.1192A>G (FANCC) | XP_006717065.1:p.Ile398Val | |
| XM_006717004.2:c.*87A>G (FANCC) | XP_006717067.1:n.*87A>G | |
| XM_011518365.1:c.1192A>G (FANCC) | XP_011516667.1:p.Ile398Val | |
| XM_011518366.1:c.1192A>G (FANCC) | XP_011516668.1:p.Ile398Val | |
| XM_011518367.1:c.736A>G (FANCC) | XP_011516669.1:p.Ile246Val | |
| XM_011519121.1:c.2319+30820T>C (AOPEP) | XP_011517423.1:n.2319+30820T>C | |
| XM_005251802.3:c.511A>G (FANCC) | XP_005251859.1:p.Ile171Val | |
| XM_006717001.3:c.1027A>G (FANCC) | XP_006717064.1:p.Ile343Val | |
| XM_006717002.4:c.1192A>G (FANCC) | XP_006717065.1:p.Ile398Val | |
| XM_006717004.4:c.*87A>G (FANCC) | XP_006717067.1:n.*87A>G | |
| XM_011518365.3:c.1192A>G (FANCC) | XP_011516667.1:p.Ile398Val | |
| XM_011518366.3:c.1192A>G (FANCC) | XP_011516668.1:p.Ile398Val | |
| XM_011518367.2:c.736A>G (FANCC) | XP_011516669.1:p.Ile246Val | |
| XM_011519121.3:c.2319+30820T>C (AOPEP) | XP_011517423.1:n.2319+30820T>C | |
| XM_017014452.2:c.736A>G (FANCC) | XP_016869941.1:p.Ile246Val | |
| XM_017014453.1:c.736A>G (FANCC) | XP_016869942.1:p.Ile246Val | |
| XM_017014454.1:c.571A>G (FANCC) | XP_016869943.1:p.Ile191Val | |
| XM_024447451.1:c.1192A>G (FANCC) | XP_024303219.1:p.Ile398Val | |
| NM_000136.3:c.1192A>G (FANCC) MANE Select | NP_000127.2:p.Ile398Val | |
| NM_001243743.2:c.1192A>G (FANCC) | NP_001230672.1:p.Ile398Val | |
| NM_001243744.2:c.1192A>G (FANCC) | NP_001230673.1:p.Ile398Val |