Canonical Allele Identifier: CA486347853

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45198678C>T , CM000676.2:g.45198678C>T	GRCh38
NC_000014.8:g.45667881C>T , CM000676.1:g.45667881C>T	GRCh37
NC_000014.7:g.44737631C>T	NCBI36
NG_007417.1:g.67746C>T , LRG_502:g.67746C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5751C>T MANE Select	NP_065988.1:p.Ser1917=
ENST00000267430.10:c.5751C>T MANE Select	ENSP00000267430.5:p.Ser1917=
NM_001308133.1:c.5673C>T	NP_001295062.1:p.Ser1891=
NM_001308133.2:c.5673C>T	NP_001295062.1:p.Ser1891=
NM_020937.2:c.5751C>T , LRG_502t1:c.5751C>T	NP_065988.1:p.Ser1917=
NM_020937.3:c.5751C>T	NP_065988.1:p.Ser1917=
ENST00000267430.9:c.5751C>T	ENSP00000267430.5:p.Ser1917=
ENST00000542564.6:c.5673C>T	ENSP00000442493.2:p.Ser1891=
ENST00000553551.1:n.244C>T
ENST00000553551.2:n.1951C>T
ENST00000554809.5:c.2653C>T
ENST00000554809.6:c.4068C>T	ENSP00000450632.2:p.Ser1356=
ENST00000555484.1:c.129C>T	ENSP00000450797.1:p.Ser43=
ENST00000555484.2:c.1529C>T
ENST00000556250.5:c.4299C>T	ENSP00000452033.1:p.Ser1433=
ENST00000556250.6:c.5544C>T	ENSP00000452033.2:p.Ser1848=
ENST00000557110.1:c.377-54C>T	ENSP00000451846.1:n.377-54C>T
ENST00000557110.2:c.1495-54C>T
ENST00000696645.1:n.1641C>T
ENST00000696647.1:c.5375C>T	ENSP00000512778.1:p.Ala1792Val
ENST00000696648.1:c.*3776C>T	ENSP00000512779.1:n.*3776C>T
ENST00000696649.1:c.5595C>T	ENSP00000512780.1:p.Ser1865=
ENST00000696651.1:n.2191C>T
ENST00000696659.1:c.3373C>T
ENST00000696663.1:c.4682C>T
ENST00000696664.1:c.4583C>T
ENST00000696665.1:c.1495-1192C>T
ENST00000696675.1:c.*1507C>T	ENSP00000512799.1:n.*1507C>T
ENST00000696683.1:c.4379C>T
ENST00000696684.1:c.4158-1192C>T
ENST00000696685.1:c.4569C>T
ENST00000696686.1:n.2488C>T
XM_011537034.1:c.5766C>T	XP_011535336.1:p.Ser1922=
XM_011537034.2:c.5766C>T	XP_011535336.1:p.Ser1922=
XM_011537035.1:c.5688C>T	XP_011535337.1:p.Ser1896=
XM_011537035.3:c.5688C>T	XP_011535337.1:p.Ser1896=
XM_011537036.1:c.5390C>T	XP_011535338.1:p.Ala1797Val
XM_011537037.1:c.3780C>T	XP_011535339.1:p.Ser1260=
XM_011537037.3:c.3780C>T	XP_011535339.1:p.Ser1260=
XM_017021523.1:c.5356-1192C>T	XP_016877012.1:n.5356-1192C>T
XM_017021524.2:c.4803C>T	XP_016877013.1:p.Ser1601=
XM_017021525.2:c.4581C>T	XP_016877014.1:p.Ser1527=
XM_017021526.2:c.4581C>T	XP_016877015.1:p.Ser1527=
XM_017021527.1:c.4566C>T	XP_016877016.1:p.Ser1522=
XR_001750470.1:n.5482C>T
XR_001750471.2:n.5467C>T