Canonical Allele Identifier: CA7169912
Community Standard Title: NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45189163C>T , CM000676.2:g.45189163C>T GRCh38
NC_000014.8:g.45658366C>T , CM000676.1:g.45658366C>T GRCh37
NC_000014.7:g.44728116C>T NCBI36
NG_007417.1:g.58231C>T , LRG_502:g.58231C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.5141C>T MANE Select NP_065988.1:p.Ala1714Val
ENST00000267430.10:c.5141C>T MANE Select ENSP00000267430.5:p.Ala1714Val
NM_001308133.1:c.5063C>T NP_001295062.1:p.Ala1688Val
NM_001308133.2:c.5063C>T NP_001295062.1:p.Ala1688Val
NM_020937.2:c.5141C>T , LRG_502t1:c.5141C>T NP_065988.1:p.Ala1714Val
NM_020937.3:c.5141C>T NP_065988.1:p.Ala1714Val
ENST00000267430.9:c.5141C>T ENSP00000267430.5:p.Ala1714Val
ENST00000542564.6:c.5063C>T ENSP00000442493.2:p.Ala1688Val
ENST00000554809.5:c.1938C>T
ENST00000554809.6:c.3353C>T ENSP00000450632.2:p.Ala1118Val
ENST00000555484.2:c.919C>T
ENST00000556250.5:c.3689C>T ENSP00000452033.1:p.Ala1230Val
ENST00000556250.6:c.4934C>T ENSP00000452033.2:p.Ala1645Val
ENST00000557110.2:c.919C>T
ENST00000696642.1:c.*3952C>T ENSP00000512775.1:n.*3952C>T
ENST00000696645.1:n.1031C>T
ENST00000696647.1:c.5141C>T ENSP00000512778.1:p.Ala1714Val
ENST00000696648.1:c.*3166C>T ENSP00000512779.1:n.*3166C>T
ENST00000696649.1:c.4985C>T ENSP00000512780.1:p.Ala1662Val
ENST00000696650.1:n.5089C>T
ENST00000696659.1:c.3139C>T
ENST00000696663.1:c.4072C>T
ENST00000696664.1:c.3973C>T
ENST00000696665.1:c.919C>T
ENST00000696675.1:c.*897C>T ENSP00000512799.1:n.*897C>T
ENST00000696683.1:c.3958C>T
ENST00000696684.1:c.3958C>T
ENST00000696685.1:c.3958C>T
ENST00000696686.1:n.1878C>T
XM_011537034.1:c.5156C>T XP_011535336.1:p.Ala1719Val
XM_011537034.2:c.5156C>T XP_011535336.1:p.Ala1719Val
XM_011537035.1:c.5078C>T XP_011535337.1:p.Ala1693Val
XM_011537035.3:c.5078C>T XP_011535337.1:p.Ala1693Val
XM_011537036.1:c.5156C>T XP_011535338.1:p.Ala1719Val
XM_011537037.1:c.3170C>T XP_011535339.1:p.Ala1057Val
XM_011537037.3:c.3170C>T XP_011535339.1:p.Ala1057Val
XM_017021523.1:c.5156C>T XP_016877012.1:p.Ala1719Val
XM_017021524.2:c.4193C>T XP_016877013.1:p.Ala1398Val
XM_017021525.2:c.3971C>T XP_016877014.1:p.Ala1324Val
XM_017021526.2:c.3971C>T XP_016877015.1:p.Ala1324Val
XM_017021527.1:c.3956C>T XP_016877016.1:p.Ala1319Val
XR_001750470.1:n.5248C>T
XR_001750471.2:n.5233C>T