Canonical Allele Identifier: CA3771713

Gene: FANCE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35462833C>T , CM000668.2:g.35462833C>T	GRCh38
NC_000006.11:g.35430610C>T , CM000668.1:g.35430610C>T	GRCh37
NC_000006.10:g.35538588C>T	NCBI36
NG_011708.1:g.15473C>T , LRG_498:g.15473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.1316+3073C>T	ENSP00000512511.1:n.1316+3073C>T
ENST00000696265.1:c.1361C>T	ENSP00000512512.1:n.1361C>T
ENST00000696266.1:c.1073C>T	ENSP00000512513.1:n.1073C>T
ENST00000696267.1:n.1695C>T
ENST00000696269.1:n.1044C>T
ENST00000229769.3:c.1428C>T MANE Select	ENSP00000229769.2:p.Leu476=
ENST00000648059.1:c.1428C>T	ENSP00000497902.1:p.Leu476=
ENST00000229769.2:c.1428C>T	ENSP00000229769.2:p.Leu476=
NM_021922.2:c.1428C>T , LRG_498t1:c.1428C>T	NP_068741.1:p.Leu476=
XM_005248885.2:c.1407C>T	XP_005248942.1:p.Leu469=
XM_005248886.2:c.1359C>T	XP_005248943.1:p.Leu453=
XM_005248887.2:c.1383+2215C>T	XP_005248944.1:n.1383+2215C>T
XM_005248888.2:c.1316+3073C>T	XP_005248945.1:n.1316+3073C>T
XM_011514343.1:c.1134C>T	XP_011512645.1:p.Leu378=
XM_011514344.1:c.1134C>T	XP_011512646.1:p.Leu378=
XM_005248888.3:c.1316+3073C>T	XP_005248945.1:n.1316+3073C>T
XM_011514343.2:c.1134C>T	XP_011512645.1:p.Leu378=
XR_001743226.1:n.1568C>T
XR_002956267.1:n.1862C>T
NM_021922.3:c.1428C>T MANE Select	NP_068741.1:p.Leu476=