Canonical Allele Identifier: CA389607399

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45181706G>A , CM000676.2:g.45181706G>A	GRCh38
NC_000014.8:g.45650909G>A , CM000676.1:g.45650909G>A	GRCh37
NC_000014.7:g.44720659G>A	NCBI36
NG_007417.1:g.50774G>A , LRG_502:g.50774G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.4386+1G>A MANE Select	NP_065988.1:n.4386+1G>A
ENST00000267430.10:c.4386+1G>A MANE Select	ENSP00000267430.5:n.4386+1G>A
NM_001308133.1:c.4308+1G>A	NP_001295062.1:n.4308+1G>A
NM_001308133.2:c.4308+1G>A	NP_001295062.1:n.4308+1G>A
NM_020937.2:c.4386+1G>A , LRG_502t1:c.4386+1G>A	NP_065988.1:n.4386+1G>A
NM_020937.3:c.4386+1G>A	NP_065988.1:n.4386+1G>A
ENST00000267430.9:c.4386+1G>A	ENSP00000267430.5:n.4386+1G>A
ENST00000542564.6:c.4308+1G>A	ENSP00000442493.2:n.4308+1G>A
ENST00000554809.5:c.1183+1G>A
ENST00000554809.6:c.2598+1G>A	ENSP00000450632.2:n.2598+1G>A
ENST00000555013.1:n.219+1G>A
ENST00000555484.2:c.164+1G>A
ENST00000556250.5:c.2934+1G>A	ENSP00000452033.1:n.2934+1G>A
ENST00000556250.6:c.4179+1G>A	ENSP00000452033.2:n.4179+1G>A
ENST00000557110.2:c.164+1G>A
ENST00000696642.1:c.*3197+1G>A	ENSP00000512775.1:n.*3197+1G>A
ENST00000696644.1:n.122+1G>A
ENST00000696647.1:c.4386+1G>A	ENSP00000512778.1:n.4386+1G>A
ENST00000696648.1:c.*2411+1G>A	ENSP00000512779.1:n.*2411+1G>A
ENST00000696649.1:c.4230+1G>A	ENSP00000512780.1:n.4230+1G>A
ENST00000696650.1:n.4334+1G>A
ENST00000696659.1:c.2384+1G>A
ENST00000696663.1:c.3317+1G>A
ENST00000696664.1:c.3204G>A
ENST00000696665.1:c.164+1G>A
ENST00000696675.1:c.*142+1G>A	ENSP00000512799.1:n.*142+1G>A
ENST00000696683.1:c.3203+1G>A
ENST00000696684.1:c.3203+1G>A
ENST00000696685.1:c.3203+1G>A
ENST00000696686.1:n.1123+1G>A
XM_011537034.1:c.4387G>A	XP_011535336.1:p.Val1463Ile
XM_011537034.2:c.4387G>A	XP_011535336.1:p.Val1463Ile
XM_011537035.1:c.4309G>A	XP_011535337.1:p.Val1437Ile
XM_011537035.3:c.4309G>A	XP_011535337.1:p.Val1437Ile
XM_011537036.1:c.4387G>A	XP_011535338.1:p.Val1463Ile
XM_011537037.1:c.2401G>A	XP_011535339.1:p.Val801Ile
XM_011537037.3:c.2401G>A	XP_011535339.1:p.Val801Ile
XM_017021523.1:c.4387G>A	XP_016877012.1:p.Val1463Ile
XM_017021524.2:c.3424G>A	XP_016877013.1:p.Val1142Ile
XM_017021525.2:c.3202G>A	XP_016877014.1:p.Val1068Ile
XM_017021526.2:c.3202G>A	XP_016877015.1:p.Val1068Ile
XM_017021527.1:c.3201+1G>A	XP_016877016.1:n.3201+1G>A
XR_001750470.1:n.4479G>A
XR_001750471.2:n.4478+1G>A
XR_001750472.1:n.4530+1G>A