Canonical Allele Identifier: CA3771725

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35462893G>A , CM000668.2:g.35462893G>A	GRCh38
NC_000006.11:g.35430670G>A , CM000668.1:g.35430670G>A	GRCh37
NC_000006.10:g.35538648G>A	NCBI36
NG_011708.1:g.15533G>A , LRG_498:g.15533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1316+3133G>A	ENSP00000512511.1:n.1316+3133G>A
ENST00000696265.1:c.1421G>A	ENSP00000512512.1:n.1421G>A
ENST00000696266.1:c.1133G>A	ENSP00000512513.1:n.1133G>A
ENST00000696267.1:n.1755G>A
ENST00000696269.1:n.1104G>A
ENST00000229769.3:c.1488G>A MANE Select	ENSP00000229769.2:p.Val496=
ENST00000648059.1:c.1488G>A	ENSP00000497902.1:p.Val496=
ENST00000229769.2:c.1488G>A	ENSP00000229769.2:p.Val496=
NM_021922.2:c.1488G>A , LRG_498t1:c.1488G>A	NP_068741.1:p.Val496=
XM_005248885.2:c.1467G>A	XP_005248942.1:p.Val489=
XM_005248886.2:c.1419G>A	XP_005248943.1:p.Val473=
XM_005248887.2:c.1383+2275G>A	XP_005248944.1:n.1383+2275G>A
XM_005248888.2:c.1316+3133G>A	XP_005248945.1:n.1316+3133G>A
XM_011514343.1:c.1194G>A	XP_011512645.1:p.Val398=
XM_011514344.1:c.1194G>A	XP_011512646.1:p.Val398=
XM_005248888.3:c.1316+3133G>A	XP_005248945.1:n.1316+3133G>A
XM_011514343.2:c.1194G>A	XP_011512645.1:p.Val398=
XR_001743226.1:n.1628G>A
XR_002956267.1:n.1922G>A
NM_021922.3:c.1488G>A MANE Select	NP_068741.1:p.Val496=