Canonical Allele Identifier: CA389590237

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45148978C>T , CM000676.2:g.45148978C>T	GRCh38
NC_000014.8:g.45618181C>T , CM000676.1:g.45618181C>T	GRCh37
NC_000014.7:g.44687931C>T	NCBI36
NG_007417.1:g.18046C>T , LRG_502:g.18046C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.901C>T MANE Select	NP_065988.1:p.Gln301Ter
ENST00000267430.10:c.901C>T MANE Select	ENSP00000267430.5:p.Gln301Ter
NM_001308133.1:c.823C>T	NP_001295062.1:p.Gln275Ter
NM_001308133.2:c.823C>T	NP_001295062.1:p.Gln275Ter
NM_001308134.1:c.901C>T	NP_001295063.1:p.Gln301Ter
NM_001308134.2:c.901C>T	NP_001295063.1:p.Gln301Ter
NM_020937.2:c.901C>T , LRG_502t1:c.901C>T	NP_065988.1:p.Gln301Ter
NM_020937.3:c.901C>T	NP_065988.1:p.Gln301Ter
ENST00000267430.9:c.901C>T	ENSP00000267430.5:p.Gln301Ter
ENST00000542564.6:c.823C>T	ENSP00000442493.2:p.Gln275Ter
ENST00000556036.5:c.901C>T	ENSP00000450596.1:p.Gln301Ter
ENST00000556036.6:c.901C>T	ENSP00000450596.1:p.Gln301Ter
ENST00000556250.6:c.901C>T	ENSP00000452033.2:p.Gln301Ter
ENST00000696641.1:c.760-2419C>T	ENSP00000512774.1:n.760-2419C>T
ENST00000696642.1:c.901C>T	ENSP00000512775.1:p.Gln301Ter
ENST00000696643.1:c.901C>T	ENSP00000512776.1:p.Gln301Ter
ENST00000696646.1:c.823C>T	ENSP00000512777.1:p.Gln275Ter
ENST00000696647.1:c.901C>T	ENSP00000512778.1:p.Gln301Ter
ENST00000696648.1:c.901C>T	ENSP00000512779.1:p.Gln301Ter
ENST00000696649.1:c.901C>T	ENSP00000512780.1:p.Gln301Ter
ENST00000696650.1:n.849C>T
ENST00000696656.1:n.930C>T
ENST00000696657.1:c.*119C>T	ENSP00000512784.1:n.*119C>T
ENST00000696658.1:n.1451C>T
ENST00000696662.1:c.823C>T	ENSP00000512788.1:p.Gln275Ter
ENST00000696675.1:c.901C>T	ENSP00000512799.1:p.Gln301Ter
ENST00000696677.1:c.*315C>T	ENSP00000512801.1:n.*315C>T
ENST00000696678.1:n.852C>T
ENST00000696679.1:c.*119C>T	ENSP00000512802.1:n.*119C>T
ENST00000696680.1:c.901C>T	ENSP00000512803.1:p.Gln301Ter
ENST00000696681.1:c.901C>T	ENSP00000512804.1:p.Gln301Ter
ENST00000696682.1:c.901C>T	ENSP00000512805.1:p.Gln301Ter
XM_011537034.1:c.901C>T	XP_011535336.1:p.Gln301Ter
XM_011537034.2:c.901C>T	XP_011535336.1:p.Gln301Ter
XM_011537035.1:c.823C>T	XP_011535337.1:p.Gln275Ter
XM_011537035.3:c.823C>T	XP_011535337.1:p.Gln275Ter
XM_011537036.1:c.901C>T	XP_011535338.1:p.Gln301Ter
XM_017021523.1:c.901C>T	XP_016877012.1:p.Gln301Ter
XM_017021524.2:c.-63C>T	XP_016877013.1:n.-63C>T
XM_017021525.2:c.-152C>T	XP_016877014.1:n.-152C>T
XM_017021526.2:c.-152C>T	XP_016877015.1:n.-152C>T
XM_017021527.1:c.-152C>T	XP_016877016.1:n.-152C>T
XR_001750470.1:n.993C>T
XR_001750471.2:n.993C>T
XR_001750472.1:n.993C>T