Canonical Allele Identifier: CA3771540

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35457955C>T , CM000668.2:g.35457955C>T	GRCh38
NC_000006.11:g.35425732C>T , CM000668.1:g.35425732C>T	GRCh37
NC_000006.10:g.35533710C>T	NCBI36
NG_011708.1:g.10595C>T , LRG_498:g.10595C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.940C>T MANE Select	NP_068741.1:p.Gln314Ter
ENST00000229769.3:c.940C>T MANE Select	ENSP00000229769.2:p.Gln314Ter
NM_021922.2:c.940C>T , LRG_498t1:c.940C>T	NP_068741.1:p.Gln314Ter
ENST00000229769.2:c.940C>T	ENSP00000229769.2:p.Gln314Ter
ENST00000648059.1:c.940C>T	ENSP00000497902.1:p.Gln314Ter
ENST00000696264.1:c.940C>T	ENSP00000512511.1:p.Gln314Ter
ENST00000696265.1:c.940C>T	ENSP00000512512.1:p.Gln314Ter
ENST00000696266.1:c.619-342C>T	ENSP00000512513.1:n.619-342C>T
ENST00000696267.1:n.895C>T
XM_005248885.2:c.940C>T	XP_005248942.1:p.Gln314Ter
XM_005248886.2:c.901-342C>T	XP_005248943.1:n.901-342C>T
XM_005248887.2:c.940C>T	XP_005248944.1:p.Gln314Ter
XM_005248888.2:c.940C>T	XP_005248945.1:p.Gln314Ter
XM_005248888.3:c.940C>T	XP_005248945.1:p.Gln314Ter
XM_011514343.1:c.646C>T	XP_011512645.1:p.Gln216Ter
XM_011514343.2:c.646C>T	XP_011512645.1:p.Gln216Ter
XM_011514344.1:c.646C>T	XP_011512646.1:p.Gln216Ter
XR_001743226.1:n.1147C>T
XR_002956267.1:n.1462C>T