Canonical Allele Identifier: CA363778525

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35466262C>G , CM000668.2:g.35466262C>G	GRCh38
NC_000006.11:g.35434039C>G , CM000668.1:g.35434039C>G	GRCh37
NC_000006.10:g.35542017C>G	NCBI36
NG_011708.1:g.18902C>G , LRG_498:g.18902C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1335C>G	ENSP00000512511.1:p.Gly445=
ENST00000696265.1:c.1461C>G	ENSP00000512512.1:n.1461C>G
ENST00000696266.1:c.1173C>G	ENSP00000512513.1:n.1173C>G
ENST00000696267.1:n.1795C>G
ENST00000696269.1:n.1144C>G
ENST00000229769.3:c.1528C>G MANE Select	ENSP00000229769.2:p.Leu510Val
ENST00000648059.1:c.*149C>G	ENSP00000497902.1:n.*149C>G
ENST00000229769.2:c.1528C>G	ENSP00000229769.2:p.Leu510Val
NM_021922.2:c.1528C>G , LRG_498t1:c.1528C>G	NP_068741.1:p.Leu510Val
XM_005248885.2:c.1507C>G	XP_005248942.1:p.Leu503Val
XM_005248886.2:c.1459C>G	XP_005248943.1:p.Leu487Val
XM_005248887.2:c.1402C>G	XP_005248944.1:p.Leu468Val
XM_005248888.2:c.1335C>G	XP_005248945.1:p.Gly445=
XM_011514343.1:c.1234C>G	XP_011512645.1:p.Leu412Val
XM_011514344.1:c.1234C>G	XP_011512646.1:p.Leu412Val
XM_005248888.3:c.1335C>G	XP_005248945.1:p.Gly445=
XM_011514343.2:c.1234C>G	XP_011512645.1:p.Leu412Val
XR_001743226.1:n.1668C>G
XR_002956267.1:n.1962C>G
NM_021922.3:c.1528C>G MANE Select	NP_068741.1:p.Leu510Val