Canonical Allele Identifier: CA5137758

Gene: FANCC

Linked Data

• dbSNP Id: rs760518436
• ExAC: 9:97934426 C / CA
• gnomAD v2: 9-97934426-C-CA
• gnomAD v4: 9-95172144-C-CA
• MyVariant Identifiers: chr9:g.97934426_97934427insA (hg19) ; chr9:g.95172144_95172145insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95172145dup , CM000671.2:g.95172145dup	GRCh38
NC_000009.11:g.97934427dup , CM000671.1:g.97934427dup	GRCh37
NC_000009.10:g.96974248dup	NCBI36
NG_011707.1:g.150565dup , LRG_497:g.150565dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.739dup
ENST00000289081.8:c.348dup MANE Select	ENSP00000289081.3:p.Val117CysfsTer12
ENST00000375305.6:c.348dup	ENSP00000364454.1:p.Val117CysfsTer12
ENST00000490972.7:c.348dup	ENSP00000479931.1:p.Val117CysfsTer12
ENST00000636777.1:n.406dup
ENST00000647778.1:c.348dup	ENSP00000498125.1:p.Val117CysfsTer12
ENST00000647882.1:c.348dup	ENSP00000497025.1:p.Val117CysfsTer12
ENST00000649334.1:c.493dup	ENSP00000497735.1:n.493dup
ENST00000649701.1:n.63dup
ENST00000289081.7:c.348dup	ENSP00000289081.3:p.Val117CysfsTer12
ENST00000375305.5:c.348dup	ENSP00000364454.1:p.Val117CysfsTer12
ENST00000433829.1:c.348dup	ENSP00000406908.1:p.Val117CysfsTer12
ENST00000474949.1:n.705dup
ENST00000490972.6:c.348dup	ENSP00000479931.1:p.Val117CysfsTer12
NM_000136.2:c.348dup , LRG_497t1:c.348dup	NP_000127.2:p.Val117CysfsTer12
NM_001243743.1:c.348dup	NP_001230672.1:p.Val117CysfsTer12
NM_001243744.1:c.348dup	NP_001230673.1:p.Val117CysfsTer12
XM_006717001.1:c.348dup	XP_006717064.1:p.Val117CysfsTer12
XM_006717002.2:c.348dup	XP_006717065.1:p.Val117CysfsTer12
XM_006717004.2:c.348dup	XP_006717067.1:p.Val117CysfsTer12
XM_011518365.1:c.348dup	XP_011516667.1:p.Val117CysfsTer12
XM_011518366.1:c.348dup	XP_011516668.1:p.Val117CysfsTer12
XM_011518367.1:c.-109dup	XP_011516669.1:n.-109dup
XM_006717001.3:c.348dup	XP_006717064.1:p.Val117CysfsTer12
XM_006717002.4:c.348dup	XP_006717065.1:p.Val117CysfsTer12
XM_006717004.4:c.348dup	XP_006717067.1:p.Val117CysfsTer12
XM_011518365.3:c.348dup	XP_011516667.1:p.Val117CysfsTer12
XM_011518366.3:c.348dup	XP_011516668.1:p.Val117CysfsTer12
XM_011518367.2:c.-109dup	XP_011516669.1:n.-109dup
XM_017014452.2:c.-109dup	XP_016869941.1:n.-109dup
XM_017014453.1:c.-109dup	XP_016869942.1:n.-109dup
XM_017014454.1:c.-109dup	XP_016869943.1:n.-109dup
XM_024447451.1:c.348dup	XP_024303219.1:p.Val117CysfsTer12
NM_000136.3:c.348dup MANE Select	NP_000127.2:p.Val117CysfsTer12
NM_001243743.2:c.348dup	NP_001230672.1:p.Val117CysfsTer12
NM_001243744.2:c.348dup	NP_001230673.1:p.Val117CysfsTer12