Canonical Allele Identifier: CA389608105

Gene: FANCM

Linked Data

• gnomAD v4: 14-45185241-G-T
• MyVariant Identifiers: chr14:g.45654444G>T (hg19) ; chr14:g.45185241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185241G>T , CM000676.2:g.45185241G>T	GRCh38
NC_000014.8:g.45654444G>T , CM000676.1:g.45654444G>T	GRCh37
NC_000014.7:g.44724194G>T	NCBI36
NG_007417.1:g.54309G>T , LRG_502:g.54309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2752G>T	ENSP00000450632.2:p.Asp918Tyr
ENST00000555484.2:c.318G>T
ENST00000556250.6:c.4333G>T	ENSP00000452033.2:p.Asp1445Tyr
ENST00000557110.2:c.318G>T
ENST00000696642.1:c.*3351G>T	ENSP00000512775.1:n.*3351G>T
ENST00000696644.1:n.276G>T
ENST00000696645.1:n.430G>T
ENST00000696647.1:c.4540G>T	ENSP00000512778.1:p.Asp1514Tyr
ENST00000696648.1:c.*2565G>T	ENSP00000512779.1:n.*2565G>T
ENST00000696649.1:c.4384G>T	ENSP00000512780.1:p.Asp1462Tyr
ENST00000696650.1:n.4488G>T
ENST00000696659.1:c.2538G>T
ENST00000696663.1:c.3471G>T
ENST00000696664.1:c.3372G>T
ENST00000696665.1:c.318G>T
ENST00000696675.1:c.*296G>T	ENSP00000512799.1:n.*296G>T
ENST00000696683.1:c.3357G>T
ENST00000696684.1:c.3357G>T
ENST00000696685.1:c.3357G>T
ENST00000696686.1:n.1277G>T
ENST00000267430.10:c.4540G>T MANE Select	ENSP00000267430.5:p.Asp1514Tyr
ENST00000267430.9:c.4540G>T	ENSP00000267430.5:p.Asp1514Tyr
ENST00000542564.6:c.4462G>T	ENSP00000442493.2:p.Asp1488Tyr
ENST00000554809.5:c.1337G>T
ENST00000555013.1:n.373G>T
ENST00000556250.5:c.3088G>T	ENSP00000452033.1:p.Asp1030Tyr
NM_001308133.1:c.4462G>T	NP_001295062.1:p.Asp1488Tyr
NM_020937.2:c.4540G>T , LRG_502t1:c.4540G>T	NP_065988.1:p.Asp1514Tyr
NM_020937.3:c.4540G>T	NP_065988.1:p.Asp1514Tyr
XM_011537034.1:c.4555G>T	XP_011535336.1:p.Asp1519Tyr
XM_011537035.1:c.4477G>T	XP_011535337.1:p.Asp1493Tyr
XM_011537036.1:c.4555G>T	XP_011535338.1:p.Asp1519Tyr
XM_011537037.1:c.2569G>T	XP_011535339.1:p.Asp857Tyr
XM_011537034.2:c.4555G>T	XP_011535336.1:p.Asp1519Tyr
XM_011537035.3:c.4477G>T	XP_011535337.1:p.Asp1493Tyr
XM_011537037.3:c.2569G>T	XP_011535339.1:p.Asp857Tyr
XM_017021523.1:c.4555G>T	XP_016877012.1:p.Asp1519Tyr
XM_017021524.2:c.3592G>T	XP_016877013.1:p.Asp1198Tyr
XM_017021525.2:c.3370G>T	XP_016877014.1:p.Asp1124Tyr
XM_017021526.2:c.3370G>T	XP_016877015.1:p.Asp1124Tyr
XM_017021527.1:c.3355G>T	XP_016877016.1:p.Asp1119Tyr
XR_001750470.1:n.4647G>T
XR_001750471.2:n.4632G>T
XR_001750472.1:n.4684G>T
NM_020937.4:c.4540G>T MANE Select	NP_065988.1:p.Asp1514Tyr
NM_001308133.2:c.4462G>T	NP_001295062.1:p.Asp1488Tyr