Canonical Allele Identifier: CA3771590

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35458396C>T , CM000668.2:g.35458396C>T	GRCh38
NC_000006.11:g.35426173C>T , CM000668.1:g.35426173C>T	GRCh37
NC_000006.10:g.35534151C>T	NCBI36
NG_011708.1:g.11036C>T , LRG_498:g.11036C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021922.3:c.1069C>T MANE Select	NP_068741.1:p.Leu357Phe
ENST00000229769.3:c.1069C>T MANE Select	ENSP00000229769.2:p.Leu357Phe
NM_021922.2:c.1069C>T , LRG_498t1:c.1069C>T	NP_068741.1:p.Leu357Phe
ENST00000229769.2:c.1069C>T	ENSP00000229769.2:p.Leu357Phe
ENST00000648059.1:c.1069C>T	ENSP00000497902.1:p.Leu357Phe
ENST00000696264.1:c.1069C>T	ENSP00000512511.1:p.Leu357Phe
ENST00000696265.1:c.1069C>T	ENSP00000512512.1:p.Leu357Phe
ENST00000696266.1:c.718C>T	ENSP00000512513.1:p.Leu240Phe
ENST00000696267.1:n.1336C>T
XM_005248885.2:c.1048C>T	XP_005248942.1:p.Leu350Phe
XM_005248886.2:c.1000C>T	XP_005248943.1:p.Leu334Phe
XM_005248887.2:c.1069C>T	XP_005248944.1:p.Leu357Phe
XM_005248888.2:c.1069C>T	XP_005248945.1:p.Leu357Phe
XM_005248888.3:c.1069C>T	XP_005248945.1:p.Leu357Phe
XM_011514343.1:c.775C>T	XP_011512645.1:p.Leu259Phe
XM_011514343.2:c.775C>T	XP_011512645.1:p.Leu259Phe
XM_011514344.1:c.775C>T	XP_011512646.1:p.Leu259Phe
XR_001743226.1:n.1276C>T
XR_002956267.1:n.1570C>T