Canonical Allele Identifier: CA16041345
Gene: FANCC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371252
ClinVar RCV Id: RCV000409465
dbSNP Id: rs1057517125

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95149922C>A , CM000671.2:g.95149922C>A GRCh38
NC_000009.10:g.96952025C>A NCBI36
NC_000009.11:g.97912204C>A , CM000671.1:g.97912204C>A GRCh37
NG_011707.1:g.172788G>T , LRG_497:g.172788G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000289081.7:c.686+1G>T ENSP00000289081.3:p.=
ENST00000375305.5:c.686+1G>T ENSP00000364454.1:p.=
ENST00000490972.6:c.686+1G>T ENSP00000479931.1:p.=
ENST00000493098.1:n.111+1G>T
NM_000136.2:c.686+1G>T , LRG_497t1:c.686+1G>T NP_000127.2:p.=
NM_001243743.1:c.686+1G>T VV NP_001230672.1:p.=
NM_001243744.1:c.686+1G>T VV NP_001230673.1:p.=
XM_006717001.1:c.522-14420G>T XP_006717064.1:p.=
XM_006717002.2:c.686+1G>T XP_006717065.1:p.=
XM_006717004.2:c.686+1G>T XP_006717067.1:p.=
XM_011518365.1:c.686+1G>T XP_011516667.1:p.=
XM_011518366.1:c.686+1G>T XP_011516668.1:p.=
XM_011518367.1:c.230+1G>T XP_011516669.1:p.=