Canonical Allele Identifier: CA389608248

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654502A>G (hg19) ; chr14:g.45185299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185299A>G , CM000676.2:g.45185299A>G	GRCh38
NC_000014.8:g.45654502A>G , CM000676.1:g.45654502A>G	GRCh37
NC_000014.7:g.44724252A>G	NCBI36
NG_007417.1:g.54367A>G , LRG_502:g.54367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2810A>G	ENSP00000450632.2:p.Glu937Gly
ENST00000555484.2:c.376A>G
ENST00000556250.6:c.4391A>G	ENSP00000452033.2:p.Glu1464Gly
ENST00000557110.2:c.376A>G
ENST00000696642.1:c.*3409A>G	ENSP00000512775.1:n.*3409A>G
ENST00000696644.1:n.334A>G
ENST00000696645.1:n.488A>G
ENST00000696647.1:c.4598A>G	ENSP00000512778.1:p.Glu1533Gly
ENST00000696648.1:c.*2623A>G	ENSP00000512779.1:n.*2623A>G
ENST00000696649.1:c.4442A>G	ENSP00000512780.1:p.Glu1481Gly
ENST00000696650.1:n.4546A>G
ENST00000696659.1:c.2596A>G
ENST00000696663.1:c.3529A>G
ENST00000696664.1:c.3430A>G
ENST00000696665.1:c.376A>G
ENST00000696675.1:c.*354A>G	ENSP00000512799.1:n.*354A>G
ENST00000696683.1:c.3415A>G
ENST00000696684.1:c.3415A>G
ENST00000696685.1:c.3415A>G
ENST00000696686.1:n.1335A>G
ENST00000267430.10:c.4598A>G MANE Select	ENSP00000267430.5:p.Glu1533Gly
ENST00000267430.9:c.4598A>G	ENSP00000267430.5:p.Glu1533Gly
ENST00000542564.6:c.4520A>G	ENSP00000442493.2:p.Glu1507Gly
ENST00000554809.5:c.1395A>G
ENST00000555013.1:n.431A>G
ENST00000556250.5:c.3146A>G	ENSP00000452033.1:p.Glu1049Gly
NM_001308133.1:c.4520A>G	NP_001295062.1:p.Glu1507Gly
NM_020937.2:c.4598A>G , LRG_502t1:c.4598A>G	NP_065988.1:p.Glu1533Gly
NM_020937.3:c.4598A>G	NP_065988.1:p.Glu1533Gly
XM_011537034.1:c.4613A>G	XP_011535336.1:p.Glu1538Gly
XM_011537035.1:c.4535A>G	XP_011535337.1:p.Glu1512Gly
XM_011537036.1:c.4613A>G	XP_011535338.1:p.Glu1538Gly
XM_011537037.1:c.2627A>G	XP_011535339.1:p.Glu876Gly
XM_011537034.2:c.4613A>G	XP_011535336.1:p.Glu1538Gly
XM_011537035.3:c.4535A>G	XP_011535337.1:p.Glu1512Gly
XM_011537037.3:c.2627A>G	XP_011535339.1:p.Glu876Gly
XM_017021523.1:c.4613A>G	XP_016877012.1:p.Glu1538Gly
XM_017021524.2:c.3650A>G	XP_016877013.1:p.Glu1217Gly
XM_017021525.2:c.3428A>G	XP_016877014.1:p.Glu1143Gly
XM_017021526.2:c.3428A>G	XP_016877015.1:p.Glu1143Gly
XM_017021527.1:c.3413A>G	XP_016877016.1:p.Glu1138Gly
XR_001750470.1:n.4705A>G
XR_001750471.2:n.4690A>G
XR_001750472.1:n.4742A>G
NM_020937.4:c.4598A>G MANE Select	NP_065988.1:p.Glu1533Gly
NM_001308133.2:c.4520A>G	NP_001295062.1:p.Glu1507Gly