Canonical Allele Identifier: CA374338545

Gene: FANCC

Linked Data

• dbSNP Id: rs2135578318
• gnomAD v4: 9-95171082-C-T
• MyVariant Identifiers: chr9:g.97933364C>T (hg19) ; chr9:g.95171082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95171082C>T , CM000671.2:g.95171082C>T	GRCh38
NC_000009.11:g.97933364C>T , CM000671.1:g.97933364C>T	GRCh37
NC_000009.10:g.96973185C>T	NCBI36
NG_011707.1:g.151628G>A , LRG_497:g.151628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.909G>A
ENST00000289081.8:c.518G>A MANE Select	ENSP00000289081.3:p.Arg173Lys
ENST00000375305.6:c.518G>A	ENSP00000364454.1:p.Arg173Lys
ENST00000490972.7:c.518G>A	ENSP00000479931.1:p.Arg173Lys
ENST00000636777.1:n.576G>A
ENST00000649334.1:c.663G>A	ENSP00000497735.1:n.663G>A
ENST00000649701.1:n.233G>A
ENST00000289081.7:c.518G>A	ENSP00000289081.3:p.Arg173Lys
ENST00000375305.5:c.518G>A	ENSP00000364454.1:p.Arg173Lys
ENST00000490972.6:c.518G>A	ENSP00000479931.1:p.Arg173Lys
NM_000136.2:c.518G>A , LRG_497t1:c.518G>A	NP_000127.2:p.Arg173Lys
NM_001243743.1:c.518G>A	NP_001230672.1:p.Arg173Lys
NM_001243744.1:c.518G>A	NP_001230673.1:p.Arg173Lys
XM_006717001.1:c.518G>A	XP_006717064.1:p.Arg173Lys
XM_006717002.2:c.518G>A	XP_006717065.1:p.Arg173Lys
XM_006717004.2:c.518G>A	XP_006717067.1:p.Arg173Lys
XM_011518365.1:c.518G>A	XP_011516667.1:p.Arg173Lys
XM_011518366.1:c.518G>A	XP_011516668.1:p.Arg173Lys
XM_011518367.1:c.62G>A	XP_011516669.1:p.Arg21Lys
XM_006717001.3:c.518G>A	XP_006717064.1:p.Arg173Lys
XM_006717002.4:c.518G>A	XP_006717065.1:p.Arg173Lys
XM_006717004.4:c.518G>A	XP_006717067.1:p.Arg173Lys
XM_011518365.3:c.518G>A	XP_011516667.1:p.Arg173Lys
XM_011518366.3:c.518G>A	XP_011516668.1:p.Arg173Lys
XM_011518367.2:c.62G>A	XP_011516669.1:p.Arg21Lys
XM_017014452.2:c.62G>A	XP_016869941.1:p.Arg21Lys
XM_017014453.1:c.62G>A	XP_016869942.1:p.Arg21Lys
XM_017014454.1:c.62G>A	XP_016869943.1:p.Arg21Lys
XM_024447451.1:c.518G>A	XP_024303219.1:p.Arg173Lys
NM_000136.3:c.518G>A MANE Select	NP_000127.2:p.Arg173Lys
NM_001243743.2:c.518G>A	NP_001230672.1:p.Arg173Lys
NM_001243744.2:c.518G>A	NP_001230673.1:p.Arg173Lys