Canonical Allele Identifier: CA374338761

Gene: FANCC

Linked Data

• ClinVar Variation Id: 1382551
• ClinVar RCV Id: RCV002331398 ; RCV001922237
• dbSNP Id: rs2135587894
• MyVariant Identifiers: chr9:g.97934353G>A (hg19) ; chr9:g.95172071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95172071G>A , CM000671.2:g.95172071G>A	GRCh38
NC_000009.11:g.97934353G>A , CM000671.1:g.97934353G>A	GRCh37
NC_000009.10:g.96974174G>A	NCBI36
NG_011707.1:g.150639C>T , LRG_497:g.150639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.813C>T
ENST00000289081.8:c.422C>T MANE Select	ENSP00000289081.3:p.Ala141Val
ENST00000375305.6:c.422C>T	ENSP00000364454.1:p.Ala141Val
ENST00000490972.7:c.422C>T	ENSP00000479931.1:p.Ala141Val
ENST00000636777.1:n.480C>T
ENST00000647778.1:c.422C>T	ENSP00000498125.1:p.Ala141Val
ENST00000649334.1:c.567C>T	ENSP00000497735.1:n.567C>T
ENST00000649701.1:n.137C>T
ENST00000289081.7:c.422C>T	ENSP00000289081.3:p.Ala141Val
ENST00000375305.5:c.422C>T	ENSP00000364454.1:p.Ala141Val
ENST00000433829.1:c.422C>T	ENSP00000406908.1:p.Ala141Val
ENST00000474949.1:n.779C>T
ENST00000490972.6:c.422C>T	ENSP00000479931.1:p.Ala141Val
NM_000136.2:c.422C>T , LRG_497t1:c.422C>T	NP_000127.2:p.Ala141Val
NM_001243743.1:c.422C>T	NP_001230672.1:p.Ala141Val
NM_001243744.1:c.422C>T	NP_001230673.1:p.Ala141Val
XM_006717001.1:c.422C>T	XP_006717064.1:p.Ala141Val
XM_006717002.2:c.422C>T	XP_006717065.1:p.Ala141Val
XM_006717004.2:c.422C>T	XP_006717067.1:p.Ala141Val
XM_011518365.1:c.422C>T	XP_011516667.1:p.Ala141Val
XM_011518366.1:c.422C>T	XP_011516668.1:p.Ala141Val
XM_011518367.1:c.-35C>T	XP_011516669.1:n.-35C>T
XM_006717001.3:c.422C>T	XP_006717064.1:p.Ala141Val
XM_006717002.4:c.422C>T	XP_006717065.1:p.Ala141Val
XM_006717004.4:c.422C>T	XP_006717067.1:p.Ala141Val
XM_011518365.3:c.422C>T	XP_011516667.1:p.Ala141Val
XM_011518366.3:c.422C>T	XP_011516668.1:p.Ala141Val
XM_011518367.2:c.-35C>T	XP_011516669.1:n.-35C>T
XM_017014452.2:c.-35C>T	XP_016869941.1:n.-35C>T
XM_017014453.1:c.-35C>T	XP_016869942.1:n.-35C>T
XM_017014454.1:c.-35C>T	XP_016869943.1:n.-35C>T
XM_024447451.1:c.422C>T	XP_024303219.1:p.Ala141Val
NM_000136.3:c.422C>T MANE Select	NP_000127.2:p.Ala141Val
NM_001243743.2:c.422C>T	NP_001230672.1:p.Ala141Val
NM_001243744.2:c.422C>T	NP_001230673.1:p.Ala141Val