Canonical Allele Identifier: CA389608113

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654446T>A (hg19) ; chr14:g.45185243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185243T>A , CM000676.2:g.45185243T>A	GRCh38
NC_000014.8:g.45654446T>A , CM000676.1:g.45654446T>A	GRCh37
NC_000014.7:g.44724196T>A	NCBI36
NG_007417.1:g.54311T>A , LRG_502:g.54311T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2754T>A	ENSP00000450632.2:p.Asp918Glu
ENST00000555484.2:c.320T>A
ENST00000556250.6:c.4335T>A	ENSP00000452033.2:p.Asp1445Glu
ENST00000557110.2:c.320T>A
ENST00000696642.1:c.*3353T>A	ENSP00000512775.1:n.*3353T>A
ENST00000696644.1:n.278T>A
ENST00000696645.1:n.432T>A
ENST00000696647.1:c.4542T>A	ENSP00000512778.1:p.Asp1514Glu
ENST00000696648.1:c.*2567T>A	ENSP00000512779.1:n.*2567T>A
ENST00000696649.1:c.4386T>A	ENSP00000512780.1:p.Asp1462Glu
ENST00000696650.1:n.4490T>A
ENST00000696659.1:c.2540T>A
ENST00000696663.1:c.3473T>A
ENST00000696664.1:c.3374T>A
ENST00000696665.1:c.320T>A
ENST00000696675.1:c.*298T>A	ENSP00000512799.1:n.*298T>A
ENST00000696683.1:c.3359T>A
ENST00000696684.1:c.3359T>A
ENST00000696685.1:c.3359T>A
ENST00000696686.1:n.1279T>A
ENST00000267430.10:c.4542T>A MANE Select	ENSP00000267430.5:p.Asp1514Glu
ENST00000267430.9:c.4542T>A	ENSP00000267430.5:p.Asp1514Glu
ENST00000542564.6:c.4464T>A	ENSP00000442493.2:p.Asp1488Glu
ENST00000554809.5:c.1339T>A
ENST00000555013.1:n.375T>A
ENST00000556250.5:c.3090T>A	ENSP00000452033.1:p.Asp1030Glu
NM_001308133.1:c.4464T>A	NP_001295062.1:p.Asp1488Glu
NM_020937.2:c.4542T>A , LRG_502t1:c.4542T>A	NP_065988.1:p.Asp1514Glu
NM_020937.3:c.4542T>A	NP_065988.1:p.Asp1514Glu
XM_011537034.1:c.4557T>A	XP_011535336.1:p.Asp1519Glu
XM_011537035.1:c.4479T>A	XP_011535337.1:p.Asp1493Glu
XM_011537036.1:c.4557T>A	XP_011535338.1:p.Asp1519Glu
XM_011537037.1:c.2571T>A	XP_011535339.1:p.Asp857Glu
XM_011537034.2:c.4557T>A	XP_011535336.1:p.Asp1519Glu
XM_011537035.3:c.4479T>A	XP_011535337.1:p.Asp1493Glu
XM_011537037.3:c.2571T>A	XP_011535339.1:p.Asp857Glu
XM_017021523.1:c.4557T>A	XP_016877012.1:p.Asp1519Glu
XM_017021524.2:c.3594T>A	XP_016877013.1:p.Asp1198Glu
XM_017021525.2:c.3372T>A	XP_016877014.1:p.Asp1124Glu
XM_017021526.2:c.3372T>A	XP_016877015.1:p.Asp1124Glu
XM_017021527.1:c.3357T>A	XP_016877016.1:p.Asp1119Glu
XR_001750470.1:n.4649T>A
XR_001750471.2:n.4634T>A
XR_001750472.1:n.4686T>A
NM_020937.4:c.4542T>A MANE Select	NP_065988.1:p.Asp1514Glu
NM_001308133.2:c.4464T>A	NP_001295062.1:p.Asp1488Glu