Canonical Allele Identifier: CA486140779
Community Standard Title: NM_020937.4(FANCM):c.4281T>G (p.Val1427=)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45181488T>G , CM000676.2:g.45181488T>G GRCh38
NC_000014.8:g.45650691T>G , CM000676.1:g.45650691T>G GRCh37
NC_000014.7:g.44720441T>G NCBI36
NG_007417.1:g.50556T>G , LRG_502:g.50556T>G

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.4281T>G MANE Select NP_065988.1:p.Val1427=
ENST00000267430.10:c.4281T>G MANE Select ENSP00000267430.5:p.Val1427=
NM_001308133.1:c.4203T>G NP_001295062.1:p.Val1401=
NM_001308133.2:c.4203T>G NP_001295062.1:p.Val1401=
NM_020937.2:c.4281T>G , LRG_502t1:c.4281T>G NP_065988.1:p.Val1427=
NM_020937.3:c.4281T>G NP_065988.1:p.Val1427=
ENST00000267430.9:c.4281T>G ENSP00000267430.5:p.Val1427=
ENST00000542564.6:c.4203T>G ENSP00000442493.2:p.Val1401=
ENST00000554809.5:c.1078T>G
ENST00000554809.6:c.2493T>G ENSP00000450632.2:p.Val831=
ENST00000555013.1:n.114T>G
ENST00000555484.2:c.59T>G
ENST00000556250.5:c.2829T>G ENSP00000452033.1:p.Val943=
ENST00000556250.6:c.4074T>G ENSP00000452033.2:p.Val1358=
ENST00000557110.2:c.59T>G
ENST00000696642.1:c.*3092T>G ENSP00000512775.1:n.*3092T>G
ENST00000696647.1:c.4281T>G ENSP00000512778.1:p.Val1427=
ENST00000696648.1:c.*2306T>G ENSP00000512779.1:n.*2306T>G
ENST00000696649.1:c.4125T>G ENSP00000512780.1:p.Val1375=
ENST00000696650.1:n.4229T>G
ENST00000696659.1:c.2279T>G
ENST00000696663.1:c.3212T>G
ENST00000696664.1:c.3098T>G
ENST00000696665.1:c.59T>G
ENST00000696675.1:c.*37T>G ENSP00000512799.1:n.*37T>G
ENST00000696683.1:c.3098T>G
ENST00000696684.1:c.3098T>G
ENST00000696685.1:c.3098T>G
ENST00000696686.1:n.1018T>G
XM_011537034.1:c.4281T>G XP_011535336.1:p.Val1427=
XM_011537034.2:c.4281T>G XP_011535336.1:p.Val1427=
XM_011537035.1:c.4203T>G XP_011535337.1:p.Val1401=
XM_011537035.3:c.4203T>G XP_011535337.1:p.Val1401=
XM_011537036.1:c.4281T>G XP_011535338.1:p.Val1427=
XM_011537037.1:c.2295T>G XP_011535339.1:p.Val765=
XM_011537037.3:c.2295T>G XP_011535339.1:p.Val765=
XM_017021523.1:c.4281T>G XP_016877012.1:p.Val1427=
XM_017021524.2:c.3318T>G XP_016877013.1:p.Val1106=
XM_017021525.2:c.3096T>G XP_016877014.1:p.Val1032=
XM_017021526.2:c.3096T>G XP_016877015.1:p.Val1032=
XM_017021527.1:c.3096T>G XP_016877016.1:p.Val1032=
XR_001750470.1:n.4373T>G
XR_001750471.2:n.4373T>G
XR_001750472.1:n.4425T>G