Canonical Allele Identifier: CA7169632
Community Standard Title: NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45176907G>T , CM000676.2:g.45176907G>T GRCh38
NC_000014.8:g.45646110G>T , CM000676.1:g.45646110G>T GRCh37
NC_000014.7:g.44715860G>T NCBI36
NG_007417.1:g.45975G>T , LRG_502:g.45975G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.4153G>T MANE Select NP_065988.1:p.Glu1385Ter
ENST00000267430.10:c.4153G>T MANE Select ENSP00000267430.5:p.Glu1385Ter
NM_001308133.1:c.4075G>T NP_001295062.1:p.Glu1359Ter
NM_001308133.2:c.4075G>T NP_001295062.1:p.Glu1359Ter
NM_020937.2:c.4153G>T , LRG_502t1:c.4153G>T NP_065988.1:p.Glu1385Ter
NM_020937.3:c.4153G>T NP_065988.1:p.Glu1385Ter
ENST00000267430.9:c.4153G>T ENSP00000267430.5:p.Glu1385Ter
ENST00000542564.6:c.4075G>T ENSP00000442493.2:p.Glu1359Ter
ENST00000554809.5:c.950G>T
ENST00000554809.6:c.2365G>T ENSP00000450632.2:p.Glu789Ter
ENST00000556250.5:c.2701G>T ENSP00000452033.1:p.Glu901Ter
ENST00000556250.6:c.3946G>T ENSP00000452033.2:p.Glu1316Ter
ENST00000696641.1:c.3994G>T ENSP00000512774.1:p.Glu1332Ter
ENST00000696642.1:c.*2964G>T ENSP00000512775.1:n.*2964G>T
ENST00000696646.1:c.*2964G>T ENSP00000512777.1:n.*2964G>T
ENST00000696647.1:c.4153G>T ENSP00000512778.1:p.Glu1385Ter
ENST00000696648.1:c.*2178G>T ENSP00000512779.1:n.*2178G>T
ENST00000696649.1:c.3997G>T ENSP00000512780.1:p.Glu1333Ter
ENST00000696650.1:n.4101G>T
ENST00000696659.1:c.2151G>T
ENST00000696663.1:c.2970G>T
ENST00000696664.1:c.2970G>T
ENST00000696675.1:c.4153G>T ENSP00000512799.1:p.Glu1385Ter
ENST00000696683.1:c.2970G>T
ENST00000696684.1:c.2970G>T
ENST00000696685.1:c.2970G>T
XM_011537034.1:c.4153G>T XP_011535336.1:p.Glu1385Ter
XM_011537034.2:c.4153G>T XP_011535336.1:p.Glu1385Ter
XM_011537035.1:c.4075G>T XP_011535337.1:p.Glu1359Ter
XM_011537035.3:c.4075G>T XP_011535337.1:p.Glu1359Ter
XM_011537036.1:c.4153G>T XP_011535338.1:p.Glu1385Ter
XM_011537037.1:c.2167G>T XP_011535339.1:p.Glu723Ter
XM_011537037.3:c.2167G>T XP_011535339.1:p.Glu723Ter
XM_017021523.1:c.4153G>T XP_016877012.1:p.Glu1385Ter
XM_017021524.2:c.3190G>T XP_016877013.1:p.Glu1064Ter
XM_017021525.2:c.2968G>T XP_016877014.1:p.Glu990Ter
XM_017021526.2:c.2968G>T XP_016877015.1:p.Glu990Ter
XM_017021527.1:c.2968G>T XP_016877016.1:p.Glu990Ter
XR_001750470.1:n.4245G>T
XR_001750471.2:n.4245G>T
XR_001750472.1:n.4245G>T