Canonical Allele Identifier: CA159545

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35458345G>C , CM000668.2:g.35458345G>C	GRCh38
NC_000006.11:g.35426122G>C , CM000668.1:g.35426122G>C	GRCh37
NC_000006.10:g.35534100G>C	NCBI36
NG_011708.1:g.10985G>C , LRG_498:g.10985G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.1018G>C MANE Select	NP_068741.1:p.Gly340Arg
ENST00000229769.3:c.1018G>C MANE Select	ENSP00000229769.2:p.Gly340Arg
NM_021922.2:c.1018G>C , LRG_498t1:c.1018G>C	NP_068741.1:p.Gly340Arg
ENST00000229769.2:c.1018G>C	ENSP00000229769.2:p.Gly340Arg
ENST00000648059.1:c.1018G>C	ENSP00000497902.1:p.Gly340Arg
ENST00000696264.1:c.1018G>C	ENSP00000512511.1:p.Gly340Arg
ENST00000696265.1:c.1018G>C	ENSP00000512512.1:p.Gly340Arg
ENST00000696266.1:c.667G>C	ENSP00000512513.1:p.Gly223Arg
ENST00000696267.1:n.1285G>C
XM_005248885.2:c.997G>C	XP_005248942.1:p.Gly333Arg
XM_005248886.2:c.949G>C	XP_005248943.1:p.Gly317Arg
XM_005248887.2:c.1018G>C	XP_005248944.1:p.Gly340Arg
XM_005248888.2:c.1018G>C	XP_005248945.1:p.Gly340Arg
XM_005248888.3:c.1018G>C	XP_005248945.1:p.Gly340Arg
XM_011514343.1:c.724G>C	XP_011512645.1:p.Gly242Arg
XM_011514343.2:c.724G>C	XP_011512645.1:p.Gly242Arg
XM_011514344.1:c.724G>C	XP_011512646.1:p.Gly242Arg
XR_001743226.1:n.1225G>C
XR_002956267.1:n.1519G>C