Canonical Allele Identifier: CA389596615

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45173071C>T , CM000676.2:g.45173071C>T	GRCh38
NC_000014.8:g.45642274C>T , CM000676.1:g.45642274C>T	GRCh37
NC_000014.7:g.44712024C>T	NCBI36
NG_007417.1:g.42139C>T , LRG_502:g.42139C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.2177C>T MANE Select	NP_065988.1:p.Thr726Ile
ENST00000267430.10:c.2177C>T MANE Select	ENSP00000267430.5:p.Thr726Ile
NM_001308133.1:c.2099C>T	NP_001295062.1:p.Thr700Ile
NM_001308133.2:c.2099C>T	NP_001295062.1:p.Thr700Ile
NM_020937.2:c.2177C>T , LRG_502t1:c.2177C>T	NP_065988.1:p.Thr726Ile
NM_020937.3:c.2177C>T	NP_065988.1:p.Thr726Ile
ENST00000267430.9:c.2177C>T	ENSP00000267430.5:p.Thr726Ile
ENST00000542564.6:c.2099C>T	ENSP00000442493.2:p.Thr700Ile
ENST00000554809.6:c.389C>T	ENSP00000450632.2:p.Thr130Ile
ENST00000556250.5:c.725C>T	ENSP00000452033.1:p.Thr242Ile
ENST00000556250.6:c.1970C>T	ENSP00000452033.2:p.Thr657Ile
ENST00000696641.1:c.2018C>T	ENSP00000512774.1:p.Thr673Ile
ENST00000696642.1:c.*988C>T	ENSP00000512775.1:n.*988C>T
ENST00000696646.1:c.*988C>T	ENSP00000512777.1:n.*988C>T
ENST00000696647.1:c.2177C>T	ENSP00000512778.1:p.Thr726Ile
ENST00000696648.1:c.*202C>T	ENSP00000512779.1:n.*202C>T
ENST00000696649.1:c.2161-2000C>T	ENSP00000512780.1:n.2161-2000C>T
ENST00000696650.1:n.2125C>T
ENST00000696658.1:n.2727C>T
ENST00000696659.1:c.175C>T
ENST00000696663.1:c.994C>T
ENST00000696664.1:c.994C>T
ENST00000696675.1:c.2177C>T	ENSP00000512799.1:p.Thr726Ile
ENST00000696683.1:c.994C>T
ENST00000696684.1:c.994C>T
ENST00000696685.1:c.994C>T
XM_011537034.1:c.2177C>T	XP_011535336.1:p.Thr726Ile
XM_011537034.2:c.2177C>T	XP_011535336.1:p.Thr726Ile
XM_011537035.1:c.2099C>T	XP_011535337.1:p.Thr700Ile
XM_011537035.3:c.2099C>T	XP_011535337.1:p.Thr700Ile
XM_011537036.1:c.2177C>T	XP_011535338.1:p.Thr726Ile
XM_011537037.1:c.191C>T	XP_011535339.1:p.Thr64Ile
XM_011537037.3:c.191C>T	XP_011535339.1:p.Thr64Ile
XM_017021523.1:c.2177C>T	XP_016877012.1:p.Thr726Ile
XM_017021524.2:c.1214C>T	XP_016877013.1:p.Thr405Ile
XM_017021525.2:c.992C>T	XP_016877014.1:p.Thr331Ile
XM_017021526.2:c.992C>T	XP_016877015.1:p.Thr331Ile
XM_017021527.1:c.992C>T	XP_016877016.1:p.Thr331Ile
XR_001750470.1:n.2269C>T
XR_001750471.2:n.2269C>T
XR_001750472.1:n.2269C>T