Canonical Allele Identifier: CA389608279

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654516C>G (hg19) ; chr14:g.45185313C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185313C>G , CM000676.2:g.45185313C>G	GRCh38
NC_000014.8:g.45654516C>G , CM000676.1:g.45654516C>G	GRCh37
NC_000014.7:g.44724266C>G	NCBI36
NG_007417.1:g.54381C>G , LRG_502:g.54381C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2824C>G	ENSP00000450632.2:p.Gln942Glu
ENST00000555484.2:c.390C>G
ENST00000556250.6:c.4405C>G	ENSP00000452033.2:p.Gln1469Glu
ENST00000557110.2:c.390C>G
ENST00000696642.1:c.*3423C>G	ENSP00000512775.1:n.*3423C>G
ENST00000696644.1:n.348C>G
ENST00000696645.1:n.502C>G
ENST00000696647.1:c.4612C>G	ENSP00000512778.1:p.Gln1538Glu
ENST00000696648.1:c.*2637C>G	ENSP00000512779.1:n.*2637C>G
ENST00000696649.1:c.4456C>G	ENSP00000512780.1:p.Gln1486Glu
ENST00000696650.1:n.4560C>G
ENST00000696659.1:c.2610C>G
ENST00000696663.1:c.3543C>G
ENST00000696664.1:c.3444C>G
ENST00000696665.1:c.390C>G
ENST00000696675.1:c.*368C>G	ENSP00000512799.1:n.*368C>G
ENST00000696683.1:c.3429C>G
ENST00000696684.1:c.3429C>G
ENST00000696685.1:c.3429C>G
ENST00000696686.1:n.1349C>G
ENST00000267430.10:c.4612C>G MANE Select	ENSP00000267430.5:p.Gln1538Glu
ENST00000267430.9:c.4612C>G	ENSP00000267430.5:p.Gln1538Glu
ENST00000542564.6:c.4534C>G	ENSP00000442493.2:p.Gln1512Glu
ENST00000554809.5:c.1409C>G
ENST00000555013.1:n.445C>G
ENST00000556250.5:c.3160C>G	ENSP00000452033.1:p.Gln1054Glu
NM_001308133.1:c.4534C>G	NP_001295062.1:p.Gln1512Glu
NM_020937.2:c.4612C>G , LRG_502t1:c.4612C>G	NP_065988.1:p.Gln1538Glu
NM_020937.3:c.4612C>G	NP_065988.1:p.Gln1538Glu
XM_011537034.1:c.4627C>G	XP_011535336.1:p.Gln1543Glu
XM_011537035.1:c.4549C>G	XP_011535337.1:p.Gln1517Glu
XM_011537036.1:c.4627C>G	XP_011535338.1:p.Gln1543Glu
XM_011537037.1:c.2641C>G	XP_011535339.1:p.Gln881Glu
XM_011537034.2:c.4627C>G	XP_011535336.1:p.Gln1543Glu
XM_011537035.3:c.4549C>G	XP_011535337.1:p.Gln1517Glu
XM_011537037.3:c.2641C>G	XP_011535339.1:p.Gln881Glu
XM_017021523.1:c.4627C>G	XP_016877012.1:p.Gln1543Glu
XM_017021524.2:c.3664C>G	XP_016877013.1:p.Gln1222Glu
XM_017021525.2:c.3442C>G	XP_016877014.1:p.Gln1148Glu
XM_017021526.2:c.3442C>G	XP_016877015.1:p.Gln1148Glu
XM_017021527.1:c.3427C>G	XP_016877016.1:p.Gln1143Glu
XR_001750470.1:n.4719C>G
XR_001750471.2:n.4704C>G
XR_001750472.1:n.4756C>G
NM_020937.4:c.4612C>G MANE Select	NP_065988.1:p.Gln1538Glu
NM_001308133.2:c.4534C>G	NP_001295062.1:p.Gln1512Glu