Canonical Allele Identifier: CA389586328

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45196478C>T , CM000676.2:g.45196478C>T	GRCh38
NC_000014.8:g.45665681C>T , CM000676.1:g.45665681C>T	GRCh37
NC_000014.7:g.44735431C>T	NCBI36
NG_007417.1:g.65546C>T , LRG_502:g.65546C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5647C>T MANE Select	NP_065988.1:p.Gln1883Ter
ENST00000267430.10:c.5647C>T MANE Select	ENSP00000267430.5:p.Gln1883Ter
NM_001308133.1:c.5569C>T	NP_001295062.1:p.Gln1857Ter
NM_001308133.2:c.5569C>T	NP_001295062.1:p.Gln1857Ter
NM_020937.2:c.5647C>T , LRG_502t1:c.5647C>T	NP_065988.1:p.Gln1883Ter
NM_020937.3:c.5647C>T	NP_065988.1:p.Gln1883Ter
ENST00000267430.9:c.5647C>T	ENSP00000267430.5:p.Gln1883Ter
ENST00000542564.6:c.5569C>T	ENSP00000442493.2:p.Gln1857Ter
ENST00000554809.5:c.2549C>T
ENST00000554809.6:c.3964C>T	ENSP00000450632.2:p.Gln1322Ter
ENST00000555484.1:c.25C>T	ENSP00000450797.1:p.Gln9Ter
ENST00000555484.2:c.1425C>T
ENST00000556250.5:c.4195C>T	ENSP00000452033.1:p.Gln1399Ter
ENST00000556250.6:c.5440C>T	ENSP00000452033.2:p.Gln1814Ter
ENST00000557110.1:c.307C>T	ENSP00000451846.1:p.Gln103Ter
ENST00000557110.2:c.1425C>T
ENST00000696645.1:n.1537C>T
ENST00000696647.1:c.5341-2166C>T	ENSP00000512778.1:n.5341-2166C>T
ENST00000696648.1:c.*3672C>T	ENSP00000512779.1:n.*3672C>T
ENST00000696649.1:c.5491C>T	ENSP00000512780.1:p.Gln1831Ter
ENST00000696651.1:n.2087C>T
ENST00000696659.1:c.3339-2166C>T
ENST00000696663.1:c.4578C>T
ENST00000696664.1:c.4479C>T
ENST00000696665.1:c.1425C>T
ENST00000696675.1:c.*1403C>T	ENSP00000512799.1:n.*1403C>T
ENST00000696683.1:c.4275C>T
ENST00000696684.1:c.4158-3392C>T
ENST00000696685.1:c.4464C>T
ENST00000696686.1:n.2384C>T
XM_011537034.1:c.5662C>T	XP_011535336.1:p.Gln1888Ter
XM_011537034.2:c.5662C>T	XP_011535336.1:p.Gln1888Ter
XM_011537035.1:c.5584C>T	XP_011535337.1:p.Gln1862Ter
XM_011537035.3:c.5584C>T	XP_011535337.1:p.Gln1862Ter
XM_011537036.1:c.5356-2166C>T	XP_011535338.1:n.5356-2166C>T
XM_011537037.1:c.3676C>T	XP_011535339.1:p.Gln1226Ter
XM_011537037.3:c.3676C>T	XP_011535339.1:p.Gln1226Ter
XM_017021523.1:c.5356-3392C>T	XP_016877012.1:n.5356-3392C>T
XM_017021524.2:c.4699C>T	XP_016877013.1:p.Gln1567Ter
XM_017021525.2:c.4477C>T	XP_016877014.1:p.Gln1493Ter
XM_017021526.2:c.4477C>T	XP_016877015.1:p.Gln1493Ter
XM_017021527.1:c.4462C>T	XP_016877016.1:p.Gln1488Ter
XR_001750470.1:n.5448-2166C>T
XR_001750471.2:n.5433-2166C>T