Canonical Allele Identifier: CA363776947

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35459455G>A , CM000668.2:g.35459455G>A	GRCh38
NC_000006.11:g.35427232G>A , CM000668.1:g.35427232G>A	GRCh37
NC_000006.10:g.35535210G>A	NCBI36
NG_011708.1:g.12095G>A , LRG_498:g.12095G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.1237+1G>A MANE Select	NP_068741.1:n.1237+1G>A
ENST00000229769.3:c.1237+1G>A MANE Select	ENSP00000229769.2:n.1237+1G>A
NM_021922.2:c.1237+1G>A , LRG_498t1:c.1237+1G>A	NP_068741.1:n.1237+1G>A
ENST00000229769.2:c.1237+1G>A	ENSP00000229769.2:n.1237+1G>A
ENST00000648059.1:c.1237+1G>A	ENSP00000497902.1:n.1237+1G>A
ENST00000696264.1:c.1237+1G>A	ENSP00000512511.1:n.1237+1G>A
ENST00000696265.1:c.1237+1G>A	ENSP00000512512.1:n.1237+1G>A
ENST00000696266.1:c.886+1G>A	ENSP00000512513.1:n.886+1G>A
ENST00000696267.1:n.1504+1G>A
ENST00000696268.1:n.97+1G>A
XM_005248885.2:c.1216+1G>A	XP_005248942.1:n.1216+1G>A
XM_005248886.2:c.1168+1G>A	XP_005248943.1:n.1168+1G>A
XM_005248887.2:c.1237+1G>A	XP_005248944.1:n.1237+1G>A
XM_005248888.2:c.1237+1G>A	XP_005248945.1:n.1237+1G>A
XM_005248888.3:c.1237+1G>A	XP_005248945.1:n.1237+1G>A
XM_011514343.1:c.943+1G>A	XP_011512645.1:n.943+1G>A
XM_011514343.2:c.943+1G>A	XP_011512645.1:n.943+1G>A
XM_011514344.1:c.943+1G>A	XP_011512646.1:n.943+1G>A
XR_001743226.1:n.1444+1G>A
XR_002956267.1:n.1738+1G>A