Canonical Allele Identifier: CA7169800

Gene: FANCM

Linked Data

• ClinVar Variation Id: 1565497
• ClinVar RCV Id: RCV002218344
• dbSNP Id: rs770525500
• ExAC: 14:45654503 G / A
• gnomAD v2: 14-45654503-G-A
• gnomAD v3: 14-45185300-G-A
• gnomAD v4: 14-45185300-G-A
• MyVariant Identifiers: chr14:g.45654503G>A (hg19) ; chr14:g.45185300G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2811G>A	ENSP00000450632.2:p.Glu937=
ENST00000555484.2:c.377G>A
ENST00000556250.6:c.4392G>A	ENSP00000452033.2:p.Glu1464=
ENST00000557110.2:c.377G>A
ENST00000696642.1:c.*3410G>A	ENSP00000512775.1:n.*3410G>A
ENST00000696644.1:n.335G>A
ENST00000696645.1:n.489G>A
ENST00000696647.1:c.4599G>A	ENSP00000512778.1:p.Glu1533=
ENST00000696648.1:c.*2624G>A	ENSP00000512779.1:n.*2624G>A
ENST00000696649.1:c.4443G>A	ENSP00000512780.1:p.Glu1481=
ENST00000696650.1:n.4547G>A
ENST00000696659.1:c.2597G>A
ENST00000696663.1:c.3530G>A
ENST00000696664.1:c.3431G>A
ENST00000696665.1:c.377G>A
ENST00000696675.1:c.*355G>A	ENSP00000512799.1:n.*355G>A
ENST00000696683.1:c.3416G>A
ENST00000696684.1:c.3416G>A
ENST00000696685.1:c.3416G>A
ENST00000696686.1:n.1336G>A
ENST00000267430.10:c.4599G>A MANE Select	ENSP00000267430.5:p.Glu1533=
ENST00000267430.9:c.4599G>A	ENSP00000267430.5:p.Glu1533=
ENST00000542564.6:c.4521G>A	ENSP00000442493.2:p.Glu1507=
ENST00000554809.5:c.1396G>A
ENST00000555013.1:n.432G>A
ENST00000556250.5:c.3147G>A	ENSP00000452033.1:p.Glu1049=
NM_001308133.1:c.4521G>A	NP_001295062.1:p.Glu1507=
NM_020937.2:c.4599G>A , LRG_502t1:c.4599G>A	NP_065988.1:p.Glu1533=
NM_020937.3:c.4599G>A	NP_065988.1:p.Glu1533=
XM_011537034.1:c.4614G>A	XP_011535336.1:p.Glu1538=
XM_011537035.1:c.4536G>A	XP_011535337.1:p.Glu1512=
XM_011537036.1:c.4614G>A	XP_011535338.1:p.Glu1538=
XM_011537037.1:c.2628G>A	XP_011535339.1:p.Glu876=
XM_011537034.2:c.4614G>A	XP_011535336.1:p.Glu1538=
XM_011537035.3:c.4536G>A	XP_011535337.1:p.Glu1512=
XM_011537037.3:c.2628G>A	XP_011535339.1:p.Glu876=
XM_017021523.1:c.4614G>A	XP_016877012.1:p.Glu1538=
XM_017021524.2:c.3651G>A	XP_016877013.1:p.Glu1217=
XM_017021525.2:c.3429G>A	XP_016877014.1:p.Glu1143=
XM_017021526.2:c.3429G>A	XP_016877015.1:p.Glu1143=
XM_017021527.1:c.3414G>A	XP_016877016.1:p.Glu1138=
XR_001750470.1:n.4706G>A
XR_001750471.2:n.4691G>A
XR_001750472.1:n.4743G>A
NM_020937.4:c.4599G>A MANE Select	NP_065988.1:p.Glu1533=
NM_001308133.2:c.4521G>A	NP_001295062.1:p.Glu1507=