Canonical Allele Identifier: CA2580080682
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 1745846
ClinVar RCV Id: RCV002338438

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95171085dup , CM000671.2:g.95171085dup GRCh38
NC_000009.11:g.97933367dup , CM000671.1:g.97933367dup GRCh37
NC_000009.10:g.96973188dup NCBI36
NG_011707.1:g.151627dup , LRG_497:g.151627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.908dup
ENST00000289081.8:c.517dup MANE Select ENSP00000289081.3:p.Arg173LysfsTer25
ENST00000375305.6:c.517dup ENSP00000364454.1:p.Arg173LysfsTer25
ENST00000490972.7:c.517dup ENSP00000479931.1:p.Arg173LysfsTer25
ENST00000636777.1:n.575dup
ENST00000649334.1:c.662dup ENSP00000497735.1:n.662dup
ENST00000649701.1:n.232dup
ENST00000289081.7:c.517dup ENSP00000289081.3:p.Arg173LysfsTer25
ENST00000375305.5:c.517dup ENSP00000364454.1:p.Arg173LysfsTer25
ENST00000490972.6:c.517dup ENSP00000479931.1:p.Arg173LysfsTer25
NM_000136.2:c.517dup , LRG_497t1:c.517dup NP_000127.2:p.Arg173LysfsTer25
NM_001243743.1:c.517dup NP_001230672.1:p.Arg173LysfsTer25
NM_001243744.1:c.517dup NP_001230673.1:p.Arg173LysfsTer25
XM_006717001.1:c.517dup XP_006717064.1:p.Arg173LysfsTer24
XM_006717002.2:c.517dup XP_006717065.1:p.Arg173LysfsTer25
XM_006717004.2:c.517dup XP_006717067.1:p.Arg173LysfsTer25
XM_011518365.1:c.517dup XP_011516667.1:p.Arg173LysfsTer25
XM_011518366.1:c.517dup XP_011516668.1:p.Arg173LysfsTer25
XM_011518367.1:c.61dup XP_011516669.1:p.Arg21LysfsTer25
XM_006717001.3:c.517dup XP_006717064.1:p.Arg173LysfsTer24
XM_006717002.4:c.517dup XP_006717065.1:p.Arg173LysfsTer25
XM_006717004.4:c.517dup XP_006717067.1:p.Arg173LysfsTer25
XM_011518365.3:c.517dup XP_011516667.1:p.Arg173LysfsTer25
XM_011518366.3:c.517dup XP_011516668.1:p.Arg173LysfsTer25
XM_011518367.2:c.61dup XP_011516669.1:p.Arg21LysfsTer25
XM_017014452.2:c.61dup XP_016869941.1:p.Arg21LysfsTer25
XM_017014453.1:c.61dup XP_016869942.1:p.Arg21LysfsTer25
XM_017014454.1:c.61dup XP_016869943.1:p.Arg21LysfsTer24
XM_024447451.1:c.517dup XP_024303219.1:p.Arg173LysfsTer25
NM_000136.3:c.517dup MANE Select NP_000127.2:p.Arg173LysfsTer25
NM_001243743.2:c.517dup NP_001230672.1:p.Arg173LysfsTer25
NM_001243744.2:c.517dup NP_001230673.1:p.Arg173LysfsTer25