Canonical Allele Identifier: CA259601605
Community Standard Title: NM_020937.4(FANCM):c.5532A>G (p.Gln1844=)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45196363A>G , CM000676.2:g.45196363A>G GRCh38
NC_000014.8:g.45665566A>G , CM000676.1:g.45665566A>G GRCh37
NC_000014.7:g.44735316A>G NCBI36
NG_007417.1:g.65431A>G , LRG_502:g.65431A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.5532A>G MANE Select NP_065988.1:p.Gln1844=
ENST00000267430.10:c.5532A>G MANE Select ENSP00000267430.5:p.Gln1844=
NM_001308133.1:c.5454A>G NP_001295062.1:p.Gln1818=
NM_001308133.2:c.5454A>G NP_001295062.1:p.Gln1818=
NM_020937.2:c.5532A>G , LRG_502t1:c.5532A>G NP_065988.1:p.Gln1844=
NM_020937.3:c.5532A>G NP_065988.1:p.Gln1844=
ENST00000267430.9:c.5532A>G ENSP00000267430.5:p.Gln1844=
ENST00000542564.6:c.5454A>G ENSP00000442493.2:p.Gln1818=
ENST00000554809.5:c.2434A>G
ENST00000554809.6:c.3849A>G ENSP00000450632.2:p.Gln1283=
ENST00000555484.2:c.1310A>G
ENST00000556250.5:c.4080A>G ENSP00000452033.1:p.Gln1360=
ENST00000556250.6:c.5325A>G ENSP00000452033.2:p.Gln1775=
ENST00000557110.1:c.192A>G ENSP00000451846.1:p.Gln64=
ENST00000557110.2:c.1310A>G
ENST00000696645.1:n.1422A>G
ENST00000696647.1:c.5341-2281A>G ENSP00000512778.1:n.5341-2281A>G
ENST00000696648.1:c.*3557A>G ENSP00000512779.1:n.*3557A>G
ENST00000696649.1:c.5376A>G ENSP00000512780.1:p.Gln1792=
ENST00000696651.1:n.1972A>G
ENST00000696659.1:c.3339-2281A>G
ENST00000696663.1:c.4463A>G
ENST00000696664.1:c.4364A>G
ENST00000696665.1:c.1310A>G
ENST00000696675.1:c.*1288A>G ENSP00000512799.1:n.*1288A>G
ENST00000696683.1:c.4160A>G
ENST00000696684.1:c.4158-3507A>G
ENST00000696685.1:c.4349A>G
ENST00000696686.1:n.2269A>G
XM_011537034.1:c.5547A>G XP_011535336.1:p.Gln1849=
XM_011537034.2:c.5547A>G XP_011535336.1:p.Gln1849=
XM_011537035.1:c.5469A>G XP_011535337.1:p.Gln1823=
XM_011537035.3:c.5469A>G XP_011535337.1:p.Gln1823=
XM_011537036.1:c.5356-2281A>G XP_011535338.1:n.5356-2281A>G
XM_011537037.1:c.3561A>G XP_011535339.1:p.Gln1187=
XM_011537037.3:c.3561A>G XP_011535339.1:p.Gln1187=
XM_017021523.1:c.5356-3507A>G XP_016877012.1:n.5356-3507A>G
XM_017021524.2:c.4584A>G XP_016877013.1:p.Gln1528=
XM_017021525.2:c.4362A>G XP_016877014.1:p.Gln1454=
XM_017021526.2:c.4362A>G XP_016877015.1:p.Gln1454=
XM_017021527.1:c.4347A>G XP_016877016.1:p.Gln1449=
XR_001750470.1:n.5448-2281A>G
XR_001750471.2:n.5433-2281A>G