Canonical Allele Identifier: CA389608182

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654474G>A (hg19) ; chr14:g.45185271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185271G>A , CM000676.2:g.45185271G>A	GRCh38
NC_000014.8:g.45654474G>A , CM000676.1:g.45654474G>A	GRCh37
NC_000014.7:g.44724224G>A	NCBI36
NG_007417.1:g.54339G>A , LRG_502:g.54339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2782G>A	ENSP00000450632.2:p.Glu928Lys
ENST00000555484.2:c.348G>A
ENST00000556250.6:c.4363G>A	ENSP00000452033.2:p.Glu1455Lys
ENST00000557110.2:c.348G>A
ENST00000696642.1:c.*3381G>A	ENSP00000512775.1:n.*3381G>A
ENST00000696644.1:n.306G>A
ENST00000696645.1:n.460G>A
ENST00000696647.1:c.4570G>A	ENSP00000512778.1:p.Glu1524Lys
ENST00000696648.1:c.*2595G>A	ENSP00000512779.1:n.*2595G>A
ENST00000696649.1:c.4414G>A	ENSP00000512780.1:p.Glu1472Lys
ENST00000696650.1:n.4518G>A
ENST00000696659.1:c.2568G>A
ENST00000696663.1:c.3501G>A
ENST00000696664.1:c.3402G>A
ENST00000696665.1:c.348G>A
ENST00000696675.1:c.*326G>A	ENSP00000512799.1:n.*326G>A
ENST00000696683.1:c.3387G>A
ENST00000696684.1:c.3387G>A
ENST00000696685.1:c.3387G>A
ENST00000696686.1:n.1307G>A
ENST00000267430.10:c.4570G>A MANE Select	ENSP00000267430.5:p.Glu1524Lys
ENST00000267430.9:c.4570G>A	ENSP00000267430.5:p.Glu1524Lys
ENST00000542564.6:c.4492G>A	ENSP00000442493.2:p.Glu1498Lys
ENST00000554809.5:c.1367G>A
ENST00000555013.1:n.403G>A
ENST00000556250.5:c.3118G>A	ENSP00000452033.1:p.Glu1040Lys
NM_001308133.1:c.4492G>A	NP_001295062.1:p.Glu1498Lys
NM_020937.2:c.4570G>A , LRG_502t1:c.4570G>A	NP_065988.1:p.Glu1524Lys
NM_020937.3:c.4570G>A	NP_065988.1:p.Glu1524Lys
XM_011537034.1:c.4585G>A	XP_011535336.1:p.Glu1529Lys
XM_011537035.1:c.4507G>A	XP_011535337.1:p.Glu1503Lys
XM_011537036.1:c.4585G>A	XP_011535338.1:p.Glu1529Lys
XM_011537037.1:c.2599G>A	XP_011535339.1:p.Glu867Lys
XM_011537034.2:c.4585G>A	XP_011535336.1:p.Glu1529Lys
XM_011537035.3:c.4507G>A	XP_011535337.1:p.Glu1503Lys
XM_011537037.3:c.2599G>A	XP_011535339.1:p.Glu867Lys
XM_017021523.1:c.4585G>A	XP_016877012.1:p.Glu1529Lys
XM_017021524.2:c.3622G>A	XP_016877013.1:p.Glu1208Lys
XM_017021525.2:c.3400G>A	XP_016877014.1:p.Glu1134Lys
XM_017021526.2:c.3400G>A	XP_016877015.1:p.Glu1134Lys
XM_017021527.1:c.3385G>A	XP_016877016.1:p.Glu1129Lys
XR_001750470.1:n.4677G>A
XR_001750471.2:n.4662G>A
XR_001750472.1:n.4714G>A
NM_020937.4:c.4570G>A MANE Select	NP_065988.1:p.Glu1524Lys
NM_001308133.2:c.4492G>A	NP_001295062.1:p.Glu1498Lys