Canonical Allele Identifier: CA16612895

Gene: FANCC

Linked Data

• ClinVar Variation Id: 409663
• ClinVar RCV Id: RCV000463391
• dbSNP Id: rs1554842611
• MyVariant Identifiers: chr9:g.97933397dupC (hg19) ; chr9:g.97933396_97933397insC (hg19) ; chr9:g.95171115dupC (hg38) ; chr9:g.95171114_95171115insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171115dup , CM000671.2:g.95171115dup	GRCh38
NC_000009.11:g.97933397dup , CM000671.1:g.97933397dup	GRCh37
NC_000009.10:g.96973218dup	NCBI36
NG_011707.1:g.151595dup , LRG_497:g.151595dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696261.1:n.876dup
ENST00000289081.8:c.485dup MANE Select	ENSP00000289081.3:p.Glu163ArgfsTer5
ENST00000375305.6:c.485dup	ENSP00000364454.1:p.Glu163ArgfsTer5
ENST00000490972.7:c.485dup	ENSP00000479931.1:p.Glu163ArgfsTer5
ENST00000636777.1:n.543dup
ENST00000649334.1:c.630dup	ENSP00000497735.1:n.630dup
ENST00000649701.1:n.200dup
ENST00000289081.7:c.485dup	ENSP00000289081.3:p.Glu163ArgfsTer5
ENST00000375305.5:c.485dup	ENSP00000364454.1:p.Glu163ArgfsTer5
ENST00000490972.6:c.485dup	ENSP00000479931.1:p.Glu163ArgfsTer5
NM_000136.2:c.485dup , LRG_497t1:c.485dup	NP_000127.2:p.Glu163ArgfsTer5
NM_001243743.1:c.485dup	NP_001230672.1:p.Glu163ArgfsTer5
NM_001243744.1:c.485dup	NP_001230673.1:p.Glu163ArgfsTer5
XM_006717001.1:c.485dup	XP_006717064.1:p.Glu163ArgfsTer5
XM_006717002.2:c.485dup	XP_006717065.1:p.Glu163ArgfsTer5
XM_006717004.2:c.485dup	XP_006717067.1:p.Glu163ArgfsTer5
XM_011518365.1:c.485dup	XP_011516667.1:p.Glu163ArgfsTer5
XM_011518366.1:c.485dup	XP_011516668.1:p.Glu163ArgfsTer5
XM_011518367.1:c.29dup	XP_011516669.1:p.Glu11ArgfsTer5
XM_006717001.3:c.485dup	XP_006717064.1:p.Glu163ArgfsTer5
XM_006717002.4:c.485dup	XP_006717065.1:p.Glu163ArgfsTer5
XM_006717004.4:c.485dup	XP_006717067.1:p.Glu163ArgfsTer5
XM_011518365.3:c.485dup	XP_011516667.1:p.Glu163ArgfsTer5
XM_011518366.3:c.485dup	XP_011516668.1:p.Glu163ArgfsTer5
XM_011518367.2:c.29dup	XP_011516669.1:p.Glu11ArgfsTer5
XM_017014452.2:c.29dup	XP_016869941.1:p.Glu11ArgfsTer5
XM_017014453.1:c.29dup	XP_016869942.1:p.Glu11ArgfsTer5
XM_017014454.1:c.29dup	XP_016869943.1:p.Glu11ArgfsTer5
XM_024447451.1:c.485dup	XP_024303219.1:p.Glu163ArgfsTer5
NM_000136.3:c.485dup MANE Select	NP_000127.2:p.Glu163ArgfsTer5
NM_001243743.2:c.485dup	NP_001230672.1:p.Glu163ArgfsTer5
NM_001243744.2:c.485dup	NP_001230673.1:p.Glu163ArgfsTer5