Canonical Allele Identifier: CA7169764

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45183888C>T , CM000676.2:g.45183888C>T	GRCh38
NC_000014.8:g.45653091C>T , CM000676.1:g.45653091C>T	GRCh37
NC_000014.7:g.44722841C>T	NCBI36
NG_007417.1:g.52956C>T , LRG_502:g.52956C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.4501C>T MANE Select	NP_065988.1:p.Gln1501Ter
ENST00000267430.10:c.4501C>T MANE Select	ENSP00000267430.5:p.Gln1501Ter
NM_001308133.1:c.4423C>T	NP_001295062.1:p.Gln1475Ter
NM_001308133.2:c.4423C>T	NP_001295062.1:p.Gln1475Ter
NM_020937.2:c.4501C>T , LRG_502t1:c.4501C>T	NP_065988.1:p.Gln1501Ter
NM_020937.3:c.4501C>T	NP_065988.1:p.Gln1501Ter
ENST00000267430.9:c.4501C>T	ENSP00000267430.5:p.Gln1501Ter
ENST00000542564.6:c.4423C>T	ENSP00000442493.2:p.Gln1475Ter
ENST00000554809.5:c.1298C>T
ENST00000554809.6:c.2713C>T	ENSP00000450632.2:p.Gln905Ter
ENST00000555013.1:n.334C>T
ENST00000555484.2:c.279C>T
ENST00000556250.5:c.3049C>T	ENSP00000452033.1:p.Gln1017Ter
ENST00000556250.6:c.4294C>T	ENSP00000452033.2:p.Gln1432Ter
ENST00000557110.2:c.279C>T
ENST00000696642.1:c.*3312C>T	ENSP00000512775.1:n.*3312C>T
ENST00000696644.1:n.237C>T
ENST00000696645.1:n.391C>T
ENST00000696647.1:c.4501C>T	ENSP00000512778.1:p.Gln1501Ter
ENST00000696648.1:c.*2526C>T	ENSP00000512779.1:n.*2526C>T
ENST00000696649.1:c.4345C>T	ENSP00000512780.1:p.Gln1449Ter
ENST00000696650.1:n.4449C>T
ENST00000696659.1:c.2499C>T
ENST00000696663.1:c.3432C>T
ENST00000696664.1:c.3333C>T
ENST00000696665.1:c.279C>T
ENST00000696675.1:c.*257C>T	ENSP00000512799.1:n.*257C>T
ENST00000696683.1:c.3318C>T
ENST00000696684.1:c.3318C>T
ENST00000696685.1:c.3318C>T
ENST00000696686.1:n.1238C>T
XM_011537034.1:c.4516C>T	XP_011535336.1:p.Gln1506Ter
XM_011537034.2:c.4516C>T	XP_011535336.1:p.Gln1506Ter
XM_011537035.1:c.4438C>T	XP_011535337.1:p.Gln1480Ter
XM_011537035.3:c.4438C>T	XP_011535337.1:p.Gln1480Ter
XM_011537036.1:c.4516C>T	XP_011535338.1:p.Gln1506Ter
XM_011537037.1:c.2530C>T	XP_011535339.1:p.Gln844Ter
XM_011537037.3:c.2530C>T	XP_011535339.1:p.Gln844Ter
XM_017021523.1:c.4516C>T	XP_016877012.1:p.Gln1506Ter
XM_017021524.2:c.3553C>T	XP_016877013.1:p.Gln1185Ter
XM_017021525.2:c.3331C>T	XP_016877014.1:p.Gln1111Ter
XM_017021526.2:c.3331C>T	XP_016877015.1:p.Gln1111Ter
XM_017021527.1:c.3316C>T	XP_016877016.1:p.Gln1106Ter
XR_001750470.1:n.4608C>T
XR_001750471.2:n.4593C>T
XR_001750472.1:n.4645C>T