Canonical Allele Identifier: CA363777386

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35460554A>G , CM000668.2:g.35460554A>G	GRCh38
NC_000006.11:g.35428331A>G , CM000668.1:g.35428331A>G	GRCh37
NC_000006.10:g.35536309A>G	NCBI36
NG_011708.1:g.13194A>G , LRG_498:g.13194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1316+794A>G	ENSP00000512511.1:n.1316+794A>G
ENST00000696265.1:c.1316+794A>G	ENSP00000512512.1:n.1316+794A>G
ENST00000696266.1:c.966-2A>G	ENSP00000512513.1:n.966-2A>G
ENST00000696267.1:n.1586A>G
ENST00000696268.1:n.179A>G
ENST00000229769.3:c.1319A>G MANE Select	ENSP00000229769.2:p.Gln440Arg
ENST00000648059.1:c.1319A>G	ENSP00000497902.1:p.Gln440Arg
ENST00000229769.2:c.1319A>G	ENSP00000229769.2:p.Gln440Arg
NM_021922.2:c.1319A>G , LRG_498t1:c.1319A>G	NP_068741.1:p.Gln440Arg
XM_005248885.2:c.1298A>G	XP_005248942.1:p.Gln433Arg
XM_005248886.2:c.1250A>G	XP_005248943.1:p.Gln417Arg
XM_005248887.2:c.1319A>G	XP_005248944.1:p.Gln440Arg
XM_005248888.2:c.1316+794A>G	XP_005248945.1:n.1316+794A>G
XM_011514343.1:c.1025A>G	XP_011512645.1:p.Gln342Arg
XM_011514344.1:c.1025A>G	XP_011512646.1:p.Gln342Arg
XM_005248888.3:c.1316+794A>G	XP_005248945.1:n.1316+794A>G
XM_011514343.2:c.1025A>G	XP_011512645.1:p.Gln342Arg
XR_001743226.1:n.1523+794A>G
XR_002956267.1:n.1817+794A>G
NM_021922.3:c.1319A>G MANE Select	NP_068741.1:p.Gln440Arg