Canonical Allele Identifier: CA259634556

Gene: FANCM

Linked Data

• ClinVar Variation Id: 2081761
• ClinVar RCV Id: RCV002995596
• dbSNP Id: rs960743288
• gnomAD v2: 14-45654472-C-A
• gnomAD v3: 14-45185269-C-A
• gnomAD v4: 14-45185269-C-A
• MyVariant Identifiers: chr14:g.45654472C>A (hg19) ; chr14:g.45185269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185269C>A , CM000676.2:g.45185269C>A	GRCh38
NC_000014.8:g.45654472C>A , CM000676.1:g.45654472C>A	GRCh37
NC_000014.7:g.44724222C>A	NCBI36
NG_007417.1:g.54337C>A , LRG_502:g.54337C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2780C>A	ENSP00000450632.2:p.Ala927Glu
ENST00000555484.2:c.346C>A
ENST00000556250.6:c.4361C>A	ENSP00000452033.2:p.Ala1454Glu
ENST00000557110.2:c.346C>A
ENST00000696642.1:c.*3379C>A	ENSP00000512775.1:n.*3379C>A
ENST00000696644.1:n.304C>A
ENST00000696645.1:n.458C>A
ENST00000696647.1:c.4568C>A	ENSP00000512778.1:p.Ala1523Glu
ENST00000696648.1:c.*2593C>A	ENSP00000512779.1:n.*2593C>A
ENST00000696649.1:c.4412C>A	ENSP00000512780.1:p.Ala1471Glu
ENST00000696650.1:n.4516C>A
ENST00000696659.1:c.2566C>A
ENST00000696663.1:c.3499C>A
ENST00000696664.1:c.3400C>A
ENST00000696665.1:c.346C>A
ENST00000696675.1:c.*324C>A	ENSP00000512799.1:n.*324C>A
ENST00000696683.1:c.3385C>A
ENST00000696684.1:c.3385C>A
ENST00000696685.1:c.3385C>A
ENST00000696686.1:n.1305C>A
ENST00000267430.10:c.4568C>A MANE Select	ENSP00000267430.5:p.Ala1523Glu
ENST00000267430.9:c.4568C>A	ENSP00000267430.5:p.Ala1523Glu
ENST00000542564.6:c.4490C>A	ENSP00000442493.2:p.Ala1497Glu
ENST00000554809.5:c.1365C>A
ENST00000555013.1:n.401C>A
ENST00000556250.5:c.3116C>A	ENSP00000452033.1:p.Ala1039Glu
NM_001308133.1:c.4490C>A	NP_001295062.1:p.Ala1497Glu
NM_020937.2:c.4568C>A , LRG_502t1:c.4568C>A	NP_065988.1:p.Ala1523Glu
NM_020937.3:c.4568C>A	NP_065988.1:p.Ala1523Glu
XM_011537034.1:c.4583C>A	XP_011535336.1:p.Ala1528Glu
XM_011537035.1:c.4505C>A	XP_011535337.1:p.Ala1502Glu
XM_011537036.1:c.4583C>A	XP_011535338.1:p.Ala1528Glu
XM_011537037.1:c.2597C>A	XP_011535339.1:p.Ala866Glu
XM_011537034.2:c.4583C>A	XP_011535336.1:p.Ala1528Glu
XM_011537035.3:c.4505C>A	XP_011535337.1:p.Ala1502Glu
XM_011537037.3:c.2597C>A	XP_011535339.1:p.Ala866Glu
XM_017021523.1:c.4583C>A	XP_016877012.1:p.Ala1528Glu
XM_017021524.2:c.3620C>A	XP_016877013.1:p.Ala1207Glu
XM_017021525.2:c.3398C>A	XP_016877014.1:p.Ala1133Glu
XM_017021526.2:c.3398C>A	XP_016877015.1:p.Ala1133Glu
XM_017021527.1:c.3383C>A	XP_016877016.1:p.Ala1128Glu
XR_001750470.1:n.4675C>A
XR_001750471.2:n.4660C>A
XR_001750472.1:n.4712C>A
NM_020937.4:c.4568C>A MANE Select	NP_065988.1:p.Ala1523Glu
NM_001308133.2:c.4490C>A	NP_001295062.1:p.Ala1497Glu