Canonical Allele Identifier: CA7169742

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45183797G>C , CM000676.2:g.45183797G>C	GRCh38
NC_000014.8:g.45653000G>C , CM000676.1:g.45653000G>C	GRCh37
NC_000014.7:g.44722750G>C	NCBI36
NG_007417.1:g.52865G>C , LRG_502:g.52865G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.4410G>C MANE Select	NP_065988.1:p.Glu1470Asp
ENST00000267430.10:c.4410G>C MANE Select	ENSP00000267430.5:p.Glu1470Asp
NM_001308133.1:c.4332G>C	NP_001295062.1:p.Glu1444Asp
NM_001308133.2:c.4332G>C	NP_001295062.1:p.Glu1444Asp
NM_020937.2:c.4410G>C , LRG_502t1:c.4410G>C	NP_065988.1:p.Glu1470Asp
NM_020937.3:c.4410G>C	NP_065988.1:p.Glu1470Asp
ENST00000267430.9:c.4410G>C	ENSP00000267430.5:p.Glu1470Asp
ENST00000542564.6:c.4332G>C	ENSP00000442493.2:p.Glu1444Asp
ENST00000554809.5:c.1207G>C
ENST00000554809.6:c.2622G>C	ENSP00000450632.2:p.Glu874Asp
ENST00000555013.1:n.243G>C
ENST00000555484.2:c.188G>C
ENST00000556250.5:c.2958G>C	ENSP00000452033.1:p.Glu986Asp
ENST00000556250.6:c.4203G>C	ENSP00000452033.2:p.Glu1401Asp
ENST00000557110.2:c.188G>C
ENST00000696642.1:c.*3221G>C	ENSP00000512775.1:n.*3221G>C
ENST00000696644.1:n.146G>C
ENST00000696645.1:n.300G>C
ENST00000696647.1:c.4410G>C	ENSP00000512778.1:p.Glu1470Asp
ENST00000696648.1:c.*2435G>C	ENSP00000512779.1:n.*2435G>C
ENST00000696649.1:c.4254G>C	ENSP00000512780.1:p.Glu1418Asp
ENST00000696650.1:n.4358G>C
ENST00000696659.1:c.2408G>C
ENST00000696663.1:c.3341G>C
ENST00000696664.1:c.3242G>C
ENST00000696665.1:c.188G>C
ENST00000696675.1:c.*166G>C	ENSP00000512799.1:n.*166G>C
ENST00000696683.1:c.3227G>C
ENST00000696684.1:c.3227G>C
ENST00000696685.1:c.3227G>C
ENST00000696686.1:n.1147G>C
XM_011537034.1:c.4425G>C	XP_011535336.1:p.Glu1475Asp
XM_011537034.2:c.4425G>C	XP_011535336.1:p.Glu1475Asp
XM_011537035.1:c.4347G>C	XP_011535337.1:p.Glu1449Asp
XM_011537035.3:c.4347G>C	XP_011535337.1:p.Glu1449Asp
XM_011537036.1:c.4425G>C	XP_011535338.1:p.Glu1475Asp
XM_011537037.1:c.2439G>C	XP_011535339.1:p.Glu813Asp
XM_011537037.3:c.2439G>C	XP_011535339.1:p.Glu813Asp
XM_017021523.1:c.4425G>C	XP_016877012.1:p.Glu1475Asp
XM_017021524.2:c.3462G>C	XP_016877013.1:p.Glu1154Asp
XM_017021525.2:c.3240G>C	XP_016877014.1:p.Glu1080Asp
XM_017021526.2:c.3240G>C	XP_016877015.1:p.Glu1080Asp
XM_017021527.1:c.3225G>C	XP_016877016.1:p.Glu1075Asp
XR_001750470.1:n.4517G>C
XR_001750471.2:n.4502G>C
XR_001750472.1:n.4554G>C