Linked Data
ClinVar Variation Id:
182480
ClinVar RCV Id:
RCV000160481
RCV000571755
RCV000709088
RCV001194155
RCV001085038
RCV001355168
RCV003492652
dbSNP Id:
rs143181565
ExAC:
9:97897654 C / T
gnomAD v2:
9-97897654-C-T
gnomAD v3:
9-95135372-C-T
gnomAD v4:
9-95135372-C-T
PubMed:
PMID:15695377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95135372C>T , CM000671.2:g.95135372C>T | GRCh38 |
| NC_000009.11:g.97897654C>T , CM000671.1:g.97897654C>T | GRCh37 |
| NC_000009.10:g.96937475C>T | NCBI36 |
| NG_011707.1:g.187338G>A , LRG_497:g.187338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.411-11839C>T (AOPEP) | ||
| ENST00000696261.1:n.1208G>A (FANCC) | ||
| ENST00000289081.8:c.817G>A (FANCC) MANE Select | ENSP00000289081.3:p.Glu273Lys | |
| ENST00000375305.6:c.817G>A (FANCC) | ENSP00000364454.1:p.Glu273Lys | |
| ENST00000490972.7:c.817G>A (FANCC) | ENSP00000479931.1:p.Glu273Lys | |
| ENST00000649334.1:c.962G>A (FANCC) | ENSP00000497735.1:n.962G>A | |
| ENST00000649701.1:n.532G>A (FANCC) | ||
| ENST00000289081.7:c.817G>A (FANCC) | ENSP00000289081.3:p.Glu273Lys | |
| ENST00000375305.5:c.817G>A (FANCC) | ENSP00000364454.1:p.Glu273Lys | |
| ENST00000477942.5:n.172G>A (FANCC) | ||
| ENST00000480712.5:n.2G>A (FANCC) | ||
| ENST00000490972.6:c.817G>A (FANCC) | ENSP00000479931.1:p.Glu273Lys | |
| NM_000136.2:c.817G>A , LRG_497t1:c.817G>A (FANCC) | NP_000127.2:p.Glu273Lys | |
| NM_001243743.1:c.817G>A (FANCC) | NP_001230672.1:p.Glu273Lys | |
| NM_001243744.1:c.817G>A (FANCC) | NP_001230673.1:p.Glu273Lys | |
| XM_005251802.2:c.136G>A (FANCC) | XP_005251859.1:p.Glu46Lys | |
| XM_006717001.1:c.652G>A (FANCC) | XP_006717064.1:p.Glu218Lys | |
| XM_006717002.2:c.817G>A (FANCC) | XP_006717065.1:p.Glu273Lys | |
| XM_006717004.2:c.817G>A (FANCC) | XP_006717067.1:p.Glu273Lys | |
| XM_011518365.1:c.817G>A (FANCC) | XP_011516667.1:p.Glu273Lys | |
| XM_011518366.1:c.817G>A (FANCC) | XP_011516668.1:p.Glu273Lys | |
| XM_011518367.1:c.361G>A (FANCC) | XP_011516669.1:p.Glu121Lys | |
| XM_011519121.1:c.2320-11839C>T (AOPEP) | XP_011517423.1:n.2320-11839C>T | |
| XM_005251802.3:c.136G>A (FANCC) | XP_005251859.1:p.Glu46Lys | |
| XM_006717001.3:c.652G>A (FANCC) | XP_006717064.1:p.Glu218Lys | |
| XM_006717002.4:c.817G>A (FANCC) | XP_006717065.1:p.Glu273Lys | |
| XM_006717004.4:c.817G>A (FANCC) | XP_006717067.1:p.Glu273Lys | |
| XM_011518365.3:c.817G>A (FANCC) | XP_011516667.1:p.Glu273Lys | |
| XM_011518366.3:c.817G>A (FANCC) | XP_011516668.1:p.Glu273Lys | |
| XM_011518367.2:c.361G>A (FANCC) | XP_011516669.1:p.Glu121Lys | |
| XM_011519121.3:c.2320-11839C>T (AOPEP) | XP_011517423.1:n.2320-11839C>T | |
| XM_017014452.2:c.361G>A (FANCC) | XP_016869941.1:p.Glu121Lys | |
| XM_017014453.1:c.361G>A (FANCC) | XP_016869942.1:p.Glu121Lys | |
| XM_017014454.1:c.196G>A (FANCC) | XP_016869943.1:p.Glu66Lys | |
| XM_024447451.1:c.817G>A (FANCC) | XP_024303219.1:p.Glu273Lys | |
| NM_000136.3:c.817G>A (FANCC) MANE Select | NP_000127.2:p.Glu273Lys | |
| NM_001243743.2:c.817G>A (FANCC) | NP_001230672.1:p.Glu273Lys | |
| NM_001243744.2:c.817G>A (FANCC) | NP_001230673.1:p.Glu273Lys |