Canonical Allele Identifier: CA389608250

Gene: FANCM

Linked Data

• gnomAD v4: 14-45185300-G-C
• MyVariant Identifiers: chr14:g.45654503G>C (hg19) ; chr14:g.45185300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185300G>C , CM000676.2:g.45185300G>C	GRCh38
NC_000014.8:g.45654503G>C , CM000676.1:g.45654503G>C	GRCh37
NC_000014.7:g.44724253G>C	NCBI36
NG_007417.1:g.54368G>C , LRG_502:g.54368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2811G>C	ENSP00000450632.2:p.Glu937Asp
ENST00000555484.2:c.377G>C
ENST00000556250.6:c.4392G>C	ENSP00000452033.2:p.Glu1464Asp
ENST00000557110.2:c.377G>C
ENST00000696642.1:c.*3410G>C	ENSP00000512775.1:n.*3410G>C
ENST00000696644.1:n.335G>C
ENST00000696645.1:n.489G>C
ENST00000696647.1:c.4599G>C	ENSP00000512778.1:p.Glu1533Asp
ENST00000696648.1:c.*2624G>C	ENSP00000512779.1:n.*2624G>C
ENST00000696649.1:c.4443G>C	ENSP00000512780.1:p.Glu1481Asp
ENST00000696650.1:n.4547G>C
ENST00000696659.1:c.2597G>C
ENST00000696663.1:c.3530G>C
ENST00000696664.1:c.3431G>C
ENST00000696665.1:c.377G>C
ENST00000696675.1:c.*355G>C	ENSP00000512799.1:n.*355G>C
ENST00000696683.1:c.3416G>C
ENST00000696684.1:c.3416G>C
ENST00000696685.1:c.3416G>C
ENST00000696686.1:n.1336G>C
ENST00000267430.10:c.4599G>C MANE Select	ENSP00000267430.5:p.Glu1533Asp
ENST00000267430.9:c.4599G>C	ENSP00000267430.5:p.Glu1533Asp
ENST00000542564.6:c.4521G>C	ENSP00000442493.2:p.Glu1507Asp
ENST00000554809.5:c.1396G>C
ENST00000555013.1:n.432G>C
ENST00000556250.5:c.3147G>C	ENSP00000452033.1:p.Glu1049Asp
NM_001308133.1:c.4521G>C	NP_001295062.1:p.Glu1507Asp
NM_020937.2:c.4599G>C , LRG_502t1:c.4599G>C	NP_065988.1:p.Glu1533Asp
NM_020937.3:c.4599G>C	NP_065988.1:p.Glu1533Asp
XM_011537034.1:c.4614G>C	XP_011535336.1:p.Glu1538Asp
XM_011537035.1:c.4536G>C	XP_011535337.1:p.Glu1512Asp
XM_011537036.1:c.4614G>C	XP_011535338.1:p.Glu1538Asp
XM_011537037.1:c.2628G>C	XP_011535339.1:p.Glu876Asp
XM_011537034.2:c.4614G>C	XP_011535336.1:p.Glu1538Asp
XM_011537035.3:c.4536G>C	XP_011535337.1:p.Glu1512Asp
XM_011537037.3:c.2628G>C	XP_011535339.1:p.Glu876Asp
XM_017021523.1:c.4614G>C	XP_016877012.1:p.Glu1538Asp
XM_017021524.2:c.3651G>C	XP_016877013.1:p.Glu1217Asp
XM_017021525.2:c.3429G>C	XP_016877014.1:p.Glu1143Asp
XM_017021526.2:c.3429G>C	XP_016877015.1:p.Glu1143Asp
XM_017021527.1:c.3414G>C	XP_016877016.1:p.Glu1138Asp
XR_001750470.1:n.4706G>C
XR_001750471.2:n.4691G>C
XR_001750472.1:n.4743G>C
NM_020937.4:c.4599G>C MANE Select	NP_065988.1:p.Glu1533Asp
NM_001308133.2:c.4521G>C	NP_001295062.1:p.Glu1507Asp