Canonical Allele Identifier: CA259628497
Community Standard Title: NM_020937.4(FANCM):c.3747A>G (p.Thr1249=)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45176501A>G , CM000676.2:g.45176501A>G GRCh38
NC_000014.8:g.45645704A>G , CM000676.1:g.45645704A>G GRCh37
NC_000014.7:g.44715454A>G NCBI36
NG_007417.1:g.45569A>G , LRG_502:g.45569A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.3747A>G MANE Select NP_065988.1:p.Thr1249=
ENST00000267430.10:c.3747A>G MANE Select ENSP00000267430.5:p.Thr1249=
NM_001308133.1:c.3669A>G NP_001295062.1:p.Thr1223=
NM_001308133.2:c.3669A>G NP_001295062.1:p.Thr1223=
NM_020937.2:c.3747A>G , LRG_502t1:c.3747A>G NP_065988.1:p.Thr1249=
NM_020937.3:c.3747A>G NP_065988.1:p.Thr1249=
ENST00000267430.9:c.3747A>G ENSP00000267430.5:p.Thr1249=
ENST00000542564.6:c.3669A>G ENSP00000442493.2:p.Thr1223=
ENST00000554809.5:c.544A>G
ENST00000554809.6:c.1959A>G ENSP00000450632.2:p.Thr653=
ENST00000556250.5:c.2295A>G ENSP00000452033.1:p.Thr765=
ENST00000556250.6:c.3540A>G ENSP00000452033.2:p.Thr1180=
ENST00000696641.1:c.3588A>G ENSP00000512774.1:p.Thr1196=
ENST00000696642.1:c.*2558A>G ENSP00000512775.1:n.*2558A>G
ENST00000696646.1:c.*2558A>G ENSP00000512777.1:n.*2558A>G
ENST00000696647.1:c.3747A>G ENSP00000512778.1:p.Thr1249=
ENST00000696648.1:c.*1772A>G ENSP00000512779.1:n.*1772A>G
ENST00000696649.1:c.3591A>G ENSP00000512780.1:p.Thr1197=
ENST00000696650.1:n.3695A>G
ENST00000696659.1:c.1745A>G
ENST00000696663.1:c.2564A>G
ENST00000696664.1:c.2564A>G
ENST00000696675.1:c.3747A>G ENSP00000512799.1:p.Thr1249=
ENST00000696683.1:c.2564A>G
ENST00000696684.1:c.2564A>G
ENST00000696685.1:c.2564A>G
XM_011537034.1:c.3747A>G XP_011535336.1:p.Thr1249=
XM_011537034.2:c.3747A>G XP_011535336.1:p.Thr1249=
XM_011537035.1:c.3669A>G XP_011535337.1:p.Thr1223=
XM_011537035.3:c.3669A>G XP_011535337.1:p.Thr1223=
XM_011537036.1:c.3747A>G XP_011535338.1:p.Thr1249=
XM_011537037.1:c.1761A>G XP_011535339.1:p.Thr587=
XM_011537037.3:c.1761A>G XP_011535339.1:p.Thr587=
XM_017021523.1:c.3747A>G XP_016877012.1:p.Thr1249=
XM_017021524.2:c.2784A>G XP_016877013.1:p.Thr928=
XM_017021525.2:c.2562A>G XP_016877014.1:p.Thr854=
XM_017021526.2:c.2562A>G XP_016877015.1:p.Thr854=
XM_017021527.1:c.2562A>G XP_016877016.1:p.Thr854=
XR_001750470.1:n.3839A>G
XR_001750471.2:n.3839A>G
XR_001750472.1:n.3839A>G