Canonical Allele Identifier: CA389598153

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45175332G>T , CM000676.2:g.45175332G>T	GRCh38
NC_000014.8:g.45644535G>T , CM000676.1:g.45644535G>T	GRCh37
NC_000014.7:g.44714285G>T	NCBI36
NG_007417.1:g.44400G>T , LRG_502:g.44400G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.2578G>T MANE Select	NP_065988.1:p.Glu860Ter
ENST00000267430.10:c.2578G>T MANE Select	ENSP00000267430.5:p.Glu860Ter
NM_001308133.1:c.2500G>T	NP_001295062.1:p.Glu834Ter
NM_001308133.2:c.2500G>T	NP_001295062.1:p.Glu834Ter
NM_020937.2:c.2578G>T , LRG_502t1:c.2578G>T	NP_065988.1:p.Glu860Ter
NM_020937.3:c.2578G>T	NP_065988.1:p.Glu860Ter
ENST00000267430.9:c.2578G>T	ENSP00000267430.5:p.Glu860Ter
ENST00000542564.6:c.2500G>T	ENSP00000442493.2:p.Glu834Ter
ENST00000554809.6:c.790G>T	ENSP00000450632.2:p.Glu264Ter
ENST00000556250.5:c.1126G>T	ENSP00000452033.1:p.Glu376Ter
ENST00000556250.6:c.2371G>T	ENSP00000452033.2:p.Glu791Ter
ENST00000696641.1:c.2419G>T	ENSP00000512774.1:p.Glu807Ter
ENST00000696642.1:c.*1389G>T	ENSP00000512775.1:n.*1389G>T
ENST00000696646.1:c.*1389G>T	ENSP00000512777.1:n.*1389G>T
ENST00000696647.1:c.2578G>T	ENSP00000512778.1:p.Glu860Ter
ENST00000696648.1:c.*603G>T	ENSP00000512779.1:n.*603G>T
ENST00000696649.1:c.2422G>T	ENSP00000512780.1:p.Glu808Ter
ENST00000696650.1:n.2526G>T
ENST00000696659.1:c.576G>T
ENST00000696663.1:c.1395G>T
ENST00000696664.1:c.1395G>T
ENST00000696675.1:c.2578G>T	ENSP00000512799.1:p.Glu860Ter
ENST00000696683.1:c.1395G>T
ENST00000696684.1:c.1395G>T
ENST00000696685.1:c.1395G>T
XM_011537034.1:c.2578G>T	XP_011535336.1:p.Glu860Ter
XM_011537034.2:c.2578G>T	XP_011535336.1:p.Glu860Ter
XM_011537035.1:c.2500G>T	XP_011535337.1:p.Glu834Ter
XM_011537035.3:c.2500G>T	XP_011535337.1:p.Glu834Ter
XM_011537036.1:c.2578G>T	XP_011535338.1:p.Glu860Ter
XM_011537037.1:c.592G>T	XP_011535339.1:p.Glu198Ter
XM_011537037.3:c.592G>T	XP_011535339.1:p.Glu198Ter
XM_017021523.1:c.2578G>T	XP_016877012.1:p.Glu860Ter
XM_017021524.2:c.1615G>T	XP_016877013.1:p.Glu539Ter
XM_017021525.2:c.1393G>T	XP_016877014.1:p.Glu465Ter
XM_017021526.2:c.1393G>T	XP_016877015.1:p.Glu465Ter
XM_017021527.1:c.1393G>T	XP_016877016.1:p.Glu465Ter
XR_001750470.1:n.2670G>T
XR_001750471.2:n.2670G>T
XR_001750472.1:n.2670G>T