Canonical Allele Identifier: CA7169672
Community Standard Title: NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45181477C>T , CM000676.2:g.45181477C>T GRCh38
NC_000014.8:g.45650680C>T , CM000676.1:g.45650680C>T GRCh37
NC_000014.7:g.44720430C>T NCBI36
NG_007417.1:g.50545C>T , LRG_502:g.50545C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.4270C>T MANE Select NP_065988.1:p.Arg1424Ter
ENST00000267430.10:c.4270C>T MANE Select ENSP00000267430.5:p.Arg1424Ter
NM_001308133.1:c.4192C>T NP_001295062.1:p.Arg1398Ter
NM_001308133.2:c.4192C>T NP_001295062.1:p.Arg1398Ter
NM_020937.2:c.4270C>T , LRG_502t1:c.4270C>T NP_065988.1:p.Arg1424Ter
NM_020937.3:c.4270C>T NP_065988.1:p.Arg1424Ter
ENST00000267430.9:c.4270C>T ENSP00000267430.5:p.Arg1424Ter
ENST00000542564.6:c.4192C>T ENSP00000442493.2:p.Arg1398Ter
ENST00000554809.5:c.1067C>T
ENST00000554809.6:c.2482C>T ENSP00000450632.2:p.Arg828Ter
ENST00000555013.1:n.103C>T
ENST00000555484.2:c.48C>T
ENST00000556250.5:c.2818C>T ENSP00000452033.1:p.Arg940Ter
ENST00000556250.6:c.4063C>T ENSP00000452033.2:p.Arg1355Ter
ENST00000557110.2:c.48C>T
ENST00000696642.1:c.*3081C>T ENSP00000512775.1:n.*3081C>T
ENST00000696647.1:c.4270C>T ENSP00000512778.1:p.Arg1424Ter
ENST00000696648.1:c.*2295C>T ENSP00000512779.1:n.*2295C>T
ENST00000696649.1:c.4114C>T ENSP00000512780.1:p.Arg1372Ter
ENST00000696650.1:n.4218C>T
ENST00000696659.1:c.2268C>T
ENST00000696663.1:c.3201C>T
ENST00000696664.1:c.3087C>T
ENST00000696665.1:c.48C>T
ENST00000696675.1:c.*26C>T ENSP00000512799.1:n.*26C>T
ENST00000696683.1:c.3087C>T
ENST00000696684.1:c.3087C>T
ENST00000696685.1:c.3087C>T
ENST00000696686.1:n.1007C>T
XM_011537034.1:c.4270C>T XP_011535336.1:p.Arg1424Ter
XM_011537034.2:c.4270C>T XP_011535336.1:p.Arg1424Ter
XM_011537035.1:c.4192C>T XP_011535337.1:p.Arg1398Ter
XM_011537035.3:c.4192C>T XP_011535337.1:p.Arg1398Ter
XM_011537036.1:c.4270C>T XP_011535338.1:p.Arg1424Ter
XM_011537037.1:c.2284C>T XP_011535339.1:p.Arg762Ter
XM_011537037.3:c.2284C>T XP_011535339.1:p.Arg762Ter
XM_017021523.1:c.4270C>T XP_016877012.1:p.Arg1424Ter
XM_017021524.2:c.3307C>T XP_016877013.1:p.Arg1103Ter
XM_017021525.2:c.3085C>T XP_016877014.1:p.Arg1029Ter
XM_017021526.2:c.3085C>T XP_016877015.1:p.Arg1029Ter
XM_017021527.1:c.3085C>T XP_016877016.1:p.Arg1029Ter
XR_001750470.1:n.4362C>T
XR_001750471.2:n.4362C>T
XR_001750472.1:n.4414C>T