Canonical Allele Identifier: CA389585939

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45196307G>T , CM000676.2:g.45196307G>T	GRCh38
NC_000014.8:g.45665510G>T , CM000676.1:g.45665510G>T	GRCh37
NC_000014.7:g.44735260G>T	NCBI36
NG_007417.1:g.65375G>T , LRG_502:g.65375G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5476G>T MANE Select	NP_065988.1:p.Glu1826Ter
ENST00000267430.10:c.5476G>T MANE Select	ENSP00000267430.5:p.Glu1826Ter
NM_001308133.1:c.5398G>T	NP_001295062.1:p.Glu1800Ter
NM_001308133.2:c.5398G>T	NP_001295062.1:p.Glu1800Ter
NM_020937.2:c.5476G>T , LRG_502t1:c.5476G>T	NP_065988.1:p.Glu1826Ter
NM_020937.3:c.5476G>T	NP_065988.1:p.Glu1826Ter
ENST00000267430.9:c.5476G>T	ENSP00000267430.5:p.Glu1826Ter
ENST00000542564.6:c.5398G>T	ENSP00000442493.2:p.Glu1800Ter
ENST00000554809.5:c.2378G>T
ENST00000554809.6:c.3793G>T	ENSP00000450632.2:p.Glu1265Ter
ENST00000555484.2:c.1254G>T
ENST00000556250.5:c.4024G>T	ENSP00000452033.1:p.Glu1342Ter
ENST00000556250.6:c.5269G>T	ENSP00000452033.2:p.Glu1757Ter
ENST00000557110.1:c.136G>T	ENSP00000451846.1:p.Glu46Ter
ENST00000557110.2:c.1254G>T
ENST00000696645.1:n.1366G>T
ENST00000696647.1:c.5341-2337G>T	ENSP00000512778.1:n.5341-2337G>T
ENST00000696648.1:c.*3501G>T	ENSP00000512779.1:n.*3501G>T
ENST00000696649.1:c.5320G>T	ENSP00000512780.1:p.Glu1774Ter
ENST00000696651.1:n.1916G>T
ENST00000696659.1:c.3339-2337G>T
ENST00000696663.1:c.4407G>T
ENST00000696664.1:c.4308G>T
ENST00000696665.1:c.1254G>T
ENST00000696675.1:c.*1232G>T	ENSP00000512799.1:n.*1232G>T
ENST00000696683.1:c.4104G>T
ENST00000696684.1:c.4158-3563G>T
ENST00000696685.1:c.4293G>T
ENST00000696686.1:n.2213G>T
XM_011537034.1:c.5491G>T	XP_011535336.1:p.Glu1831Ter
XM_011537034.2:c.5491G>T	XP_011535336.1:p.Glu1831Ter
XM_011537035.1:c.5413G>T	XP_011535337.1:p.Glu1805Ter
XM_011537035.3:c.5413G>T	XP_011535337.1:p.Glu1805Ter
XM_011537036.1:c.5356-2337G>T	XP_011535338.1:n.5356-2337G>T
XM_011537037.1:c.3505G>T	XP_011535339.1:p.Glu1169Ter
XM_011537037.3:c.3505G>T	XP_011535339.1:p.Glu1169Ter
XM_017021523.1:c.5356-3563G>T	XP_016877012.1:n.5356-3563G>T
XM_017021524.2:c.4528G>T	XP_016877013.1:p.Glu1510Ter
XM_017021525.2:c.4306G>T	XP_016877014.1:p.Glu1436Ter
XM_017021526.2:c.4306G>T	XP_016877015.1:p.Glu1436Ter
XM_017021527.1:c.4291G>T	XP_016877016.1:p.Glu1431Ter
XR_001750470.1:n.5448-2337G>T
XR_001750471.2:n.5433-2337G>T