Canonical Allele Identifier: CA7169898
Community Standard Title: NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45189088C>T , CM000676.2:g.45189088C>T GRCh38
NC_000014.8:g.45658291C>T , CM000676.1:g.45658291C>T GRCh37
NC_000014.7:g.44728041C>T NCBI36
NG_007417.1:g.58156C>T , LRG_502:g.58156C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.5066C>T MANE Select NP_065988.1:p.Ala1689Val
ENST00000267430.10:c.5066C>T MANE Select ENSP00000267430.5:p.Ala1689Val
NM_001308133.1:c.4988C>T NP_001295062.1:p.Ala1663Val
NM_001308133.2:c.4988C>T NP_001295062.1:p.Ala1663Val
NM_020937.2:c.5066C>T , LRG_502t1:c.5066C>T NP_065988.1:p.Ala1689Val
NM_020937.3:c.5066C>T NP_065988.1:p.Ala1689Val
ENST00000267430.9:c.5066C>T ENSP00000267430.5:p.Ala1689Val
ENST00000542564.6:c.4988C>T ENSP00000442493.2:p.Ala1663Val
ENST00000554809.5:c.1863C>T
ENST00000554809.6:c.3278C>T ENSP00000450632.2:p.Ala1093Val
ENST00000555484.2:c.844C>T
ENST00000556250.5:c.3614C>T ENSP00000452033.1:p.Ala1205Val
ENST00000556250.6:c.4859C>T ENSP00000452033.2:p.Ala1620Val
ENST00000557110.2:c.844C>T
ENST00000696642.1:c.*3877C>T ENSP00000512775.1:n.*3877C>T
ENST00000696645.1:n.956C>T
ENST00000696647.1:c.5066C>T ENSP00000512778.1:p.Ala1689Val
ENST00000696648.1:c.*3091C>T ENSP00000512779.1:n.*3091C>T
ENST00000696649.1:c.4910C>T ENSP00000512780.1:p.Ala1637Val
ENST00000696650.1:n.5014C>T
ENST00000696659.1:c.3064C>T
ENST00000696663.1:c.3997C>T
ENST00000696664.1:c.3898C>T
ENST00000696665.1:c.844C>T
ENST00000696675.1:c.*822C>T ENSP00000512799.1:n.*822C>T
ENST00000696683.1:c.3883C>T
ENST00000696684.1:c.3883C>T
ENST00000696685.1:c.3883C>T
ENST00000696686.1:n.1803C>T
XM_011537034.1:c.5081C>T XP_011535336.1:p.Ala1694Val
XM_011537034.2:c.5081C>T XP_011535336.1:p.Ala1694Val
XM_011537035.1:c.5003C>T XP_011535337.1:p.Ala1668Val
XM_011537035.3:c.5003C>T XP_011535337.1:p.Ala1668Val
XM_011537036.1:c.5081C>T XP_011535338.1:p.Ala1694Val
XM_011537037.1:c.3095C>T XP_011535339.1:p.Ala1032Val
XM_011537037.3:c.3095C>T XP_011535339.1:p.Ala1032Val
XM_017021523.1:c.5081C>T XP_016877012.1:p.Ala1694Val
XM_017021524.2:c.4118C>T XP_016877013.1:p.Ala1373Val
XM_017021525.2:c.3896C>T XP_016877014.1:p.Ala1299Val
XM_017021526.2:c.3896C>T XP_016877015.1:p.Ala1299Val
XM_017021527.1:c.3881C>T XP_016877016.1:p.Ala1294Val
XR_001750470.1:n.5173C>T
XR_001750471.2:n.5158C>T