Canonical Allele Identifier: CA374338613

Gene: FANCC

Linked Data

• ClinVar Variation Id: 2450925
• ClinVar RCV Id: RCV003171544
• dbSNP Id: rs2135579156
• MyVariant Identifiers: chr9:g.97933395C>T (hg19) ; chr9:g.95171113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171113C>T , CM000671.2:g.95171113C>T	GRCh38
NC_000009.11:g.97933395C>T , CM000671.1:g.97933395C>T	GRCh37
NC_000009.10:g.96973216C>T	NCBI36
NG_011707.1:g.151597G>A , LRG_497:g.151597G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696261.1:n.878G>A
ENST00000289081.8:c.487G>A MANE Select	ENSP00000289081.3:p.Glu163Lys
ENST00000375305.6:c.487G>A	ENSP00000364454.1:p.Glu163Lys
ENST00000490972.7:c.487G>A	ENSP00000479931.1:p.Glu163Lys
ENST00000636777.1:n.545G>A
ENST00000649334.1:c.632G>A	ENSP00000497735.1:n.632G>A
ENST00000649701.1:n.202G>A
ENST00000289081.7:c.487G>A	ENSP00000289081.3:p.Glu163Lys
ENST00000375305.5:c.487G>A	ENSP00000364454.1:p.Glu163Lys
ENST00000490972.6:c.487G>A	ENSP00000479931.1:p.Glu163Lys
NM_000136.2:c.487G>A , LRG_497t1:c.487G>A	NP_000127.2:p.Glu163Lys
NM_001243743.1:c.487G>A	NP_001230672.1:p.Glu163Lys
NM_001243744.1:c.487G>A	NP_001230673.1:p.Glu163Lys
XM_006717001.1:c.487G>A	XP_006717064.1:p.Glu163Lys
XM_006717002.2:c.487G>A	XP_006717065.1:p.Glu163Lys
XM_006717004.2:c.487G>A	XP_006717067.1:p.Glu163Lys
XM_011518365.1:c.487G>A	XP_011516667.1:p.Glu163Lys
XM_011518366.1:c.487G>A	XP_011516668.1:p.Glu163Lys
XM_011518367.1:c.31G>A	XP_011516669.1:p.Glu11Lys
XM_006717001.3:c.487G>A	XP_006717064.1:p.Glu163Lys
XM_006717002.4:c.487G>A	XP_006717065.1:p.Glu163Lys
XM_006717004.4:c.487G>A	XP_006717067.1:p.Glu163Lys
XM_011518365.3:c.487G>A	XP_011516667.1:p.Glu163Lys
XM_011518366.3:c.487G>A	XP_011516668.1:p.Glu163Lys
XM_011518367.2:c.31G>A	XP_011516669.1:p.Glu11Lys
XM_017014452.2:c.31G>A	XP_016869941.1:p.Glu11Lys
XM_017014453.1:c.31G>A	XP_016869942.1:p.Glu11Lys
XM_017014454.1:c.31G>A	XP_016869943.1:p.Glu11Lys
XM_024447451.1:c.487G>A	XP_024303219.1:p.Glu163Lys
NM_000136.3:c.487G>A MANE Select	NP_000127.2:p.Glu163Lys
NM_001243743.2:c.487G>A	NP_001230672.1:p.Glu163Lys
NM_001243744.2:c.487G>A	NP_001230673.1:p.Glu163Lys