Canonical Allele Identifier: CA7169228
Community Standard Title: NM_020937.4(FANCM):c.2046A>G (p.Glu682=)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45170632A>G , CM000676.2:g.45170632A>G GRCh38
NC_000014.8:g.45639835A>G , CM000676.1:g.45639835A>G GRCh37
NC_000014.7:g.44709585A>G NCBI36
NG_007417.1:g.39700A>G , LRG_502:g.39700A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.2046A>G MANE Select NP_065988.1:p.Glu682=
ENST00000267430.10:c.2046A>G MANE Select ENSP00000267430.5:p.Glu682=
NM_001308133.1:c.1968A>G NP_001295062.1:p.Glu656=
NM_001308133.2:c.1968A>G NP_001295062.1:p.Glu656=
NM_020937.2:c.2046A>G , LRG_502t1:c.2046A>G NP_065988.1:p.Glu682=
NM_020937.3:c.2046A>G NP_065988.1:p.Glu682=
ENST00000267430.9:c.2046A>G ENSP00000267430.5:p.Glu682=
ENST00000542564.6:c.1968A>G ENSP00000442493.2:p.Glu656=
ENST00000554809.6:c.258A>G ENSP00000450632.2:p.Glu86=
ENST00000556250.5:c.594A>G ENSP00000452033.1:p.Glu198=
ENST00000556250.6:c.1839A>G ENSP00000452033.2:p.Glu613=
ENST00000696641.1:c.1887A>G ENSP00000512774.1:p.Glu629=
ENST00000696642.1:c.*857A>G ENSP00000512775.1:n.*857A>G
ENST00000696646.1:c.*857A>G ENSP00000512777.1:n.*857A>G
ENST00000696647.1:c.2046A>G ENSP00000512778.1:p.Glu682=
ENST00000696648.1:c.*71A>G ENSP00000512779.1:n.*71A>G
ENST00000696649.1:c.2046A>G ENSP00000512780.1:p.Glu682=
ENST00000696650.1:n.1994A>G
ENST00000696658.1:n.2596A>G
ENST00000696659.1:c.44A>G
ENST00000696663.1:c.863A>G
ENST00000696664.1:c.863A>G
ENST00000696675.1:c.2046A>G ENSP00000512799.1:p.Glu682=
ENST00000696683.1:c.863A>G
ENST00000696684.1:c.863A>G
ENST00000696685.1:c.863A>G
XM_011537034.1:c.2046A>G XP_011535336.1:p.Glu682=
XM_011537034.2:c.2046A>G XP_011535336.1:p.Glu682=
XM_011537035.1:c.1968A>G XP_011535337.1:p.Glu656=
XM_011537035.3:c.1968A>G XP_011535337.1:p.Glu656=
XM_011537036.1:c.2046A>G XP_011535338.1:p.Glu682=
XM_011537037.1:c.60A>G XP_011535339.1:p.Glu20=
XM_011537037.3:c.60A>G XP_011535339.1:p.Glu20=
XM_017021523.1:c.2046A>G XP_016877012.1:p.Glu682=
XM_017021524.2:c.1083A>G XP_016877013.1:p.Glu361=
XM_017021525.2:c.861A>G XP_016877014.1:p.Glu287=
XM_017021526.2:c.861A>G XP_016877015.1:p.Glu287=
XM_017021527.1:c.861A>G XP_016877016.1:p.Glu287=
XR_001750470.1:n.2138A>G
XR_001750471.2:n.2138A>G
XR_001750472.1:n.2138A>G