Canonical Allele Identifier: CA449943249

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35459702C>T , CM000668.2:g.35459702C>T	GRCh38
NC_000006.11:g.35427479C>T , CM000668.1:g.35427479C>T	GRCh37
NC_000006.10:g.35535457C>T	NCBI36
NG_011708.1:g.12342C>T , LRG_498:g.12342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1258C>T	ENSP00000512511.1:p.Leu420=
ENST00000696265.1:c.1258C>T	ENSP00000512512.1:p.Leu420=
ENST00000696266.1:c.907C>T	ENSP00000512513.1:p.Leu303=
ENST00000696267.1:n.1525C>T
ENST00000696268.1:n.118C>T
ENST00000229769.3:c.1258C>T MANE Select	ENSP00000229769.2:p.Leu420=
ENST00000648059.1:c.1258C>T	ENSP00000497902.1:p.Leu420=
ENST00000229769.2:c.1258C>T	ENSP00000229769.2:p.Leu420=
NM_021922.2:c.1258C>T , LRG_498t1:c.1258C>T	NP_068741.1:p.Leu420=
XM_005248885.2:c.1237C>T	XP_005248942.1:p.Leu413=
XM_005248886.2:c.1189C>T	XP_005248943.1:p.Leu397=
XM_005248887.2:c.1258C>T	XP_005248944.1:p.Leu420=
XM_005248888.2:c.1258C>T	XP_005248945.1:p.Leu420=
XM_011514343.1:c.964C>T	XP_011512645.1:p.Leu322=
XM_011514344.1:c.964C>T	XP_011512646.1:p.Leu322=
XM_005248888.3:c.1258C>T	XP_005248945.1:p.Leu420=
XM_011514343.2:c.964C>T	XP_011512645.1:p.Leu322=
XR_001743226.1:n.1465C>T
XR_002956267.1:n.1759C>T
NM_021922.3:c.1258C>T MANE Select	NP_068741.1:p.Leu420=