Canonical Allele Identifier: CA389613052

Gene: FANCM

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45189259C>T , CM000676.2:g.45189259C>T	GRCh38
NC_000014.8:g.45658462C>T , CM000676.1:g.45658462C>T	GRCh37
NC_000014.7:g.44728212C>T	NCBI36
NG_007417.1:g.58327C>T , LRG_502:g.58327C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020937.4:c.5237C>T MANE Select	NP_065988.1:p.Ser1746Leu
ENST00000267430.10:c.5237C>T MANE Select	ENSP00000267430.5:p.Ser1746Leu
NM_001308133.1:c.5159C>T	NP_001295062.1:p.Ser1720Leu
NM_001308133.2:c.5159C>T	NP_001295062.1:p.Ser1720Leu
NM_020937.2:c.5237C>T , LRG_502t1:c.5237C>T	NP_065988.1:p.Ser1746Leu
NM_020937.3:c.5237C>T	NP_065988.1:p.Ser1746Leu
ENST00000267430.9:c.5237C>T	ENSP00000267430.5:p.Ser1746Leu
ENST00000542564.6:c.5159C>T	ENSP00000442493.2:p.Ser1720Leu
ENST00000554809.5:c.2034C>T
ENST00000554809.6:c.3449C>T	ENSP00000450632.2:p.Ser1150Leu
ENST00000555484.2:c.1015C>T
ENST00000556250.5:c.3785C>T	ENSP00000452033.1:p.Ser1262Leu
ENST00000556250.6:c.5030C>T	ENSP00000452033.2:p.Ser1677Leu
ENST00000557110.2:c.1015C>T
ENST00000696642.1:c.*4048C>T	ENSP00000512775.1:n.*4048C>T
ENST00000696645.1:n.1127C>T
ENST00000696647.1:c.5237C>T	ENSP00000512778.1:p.Ser1746Leu
ENST00000696648.1:c.*3262C>T	ENSP00000512779.1:n.*3262C>T
ENST00000696649.1:c.5081C>T	ENSP00000512780.1:p.Ser1694Leu
ENST00000696650.1:n.5185C>T
ENST00000696659.1:c.3235C>T
ENST00000696663.1:c.4168C>T
ENST00000696664.1:c.4069C>T
ENST00000696665.1:c.1015C>T
ENST00000696675.1:c.*993C>T	ENSP00000512799.1:n.*993C>T
ENST00000696683.1:c.3968+86C>T
ENST00000696684.1:c.4054C>T
ENST00000696685.1:c.4054C>T
ENST00000696686.1:n.1974C>T
XM_011537034.1:c.5252C>T	XP_011535336.1:p.Ser1751Leu
XM_011537034.2:c.5252C>T	XP_011535336.1:p.Ser1751Leu
XM_011537035.1:c.5174C>T	XP_011535337.1:p.Ser1725Leu
XM_011537035.3:c.5174C>T	XP_011535337.1:p.Ser1725Leu
XM_011537036.1:c.5252C>T	XP_011535338.1:p.Ser1751Leu
XM_011537037.1:c.3266C>T	XP_011535339.1:p.Ser1089Leu
XM_011537037.3:c.3266C>T	XP_011535339.1:p.Ser1089Leu
XM_017021523.1:c.5252C>T	XP_016877012.1:p.Ser1751Leu
XM_017021524.2:c.4289C>T	XP_016877013.1:p.Ser1430Leu
XM_017021525.2:c.4067C>T	XP_016877014.1:p.Ser1356Leu
XM_017021526.2:c.4067C>T	XP_016877015.1:p.Ser1356Leu
XM_017021527.1:c.4052C>T	XP_016877016.1:p.Ser1351Leu
XR_001750470.1:n.5344C>T
XR_001750471.2:n.5329C>T