Canonical Allele Identifier: CA7169620
Community Standard Title: NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45176838G>A , CM000676.2:g.45176838G>A GRCh38
NC_000014.8:g.45646041G>A , CM000676.1:g.45646041G>A GRCh37
NC_000014.7:g.44715791G>A NCBI36
NG_007417.1:g.45906G>A , LRG_502:g.45906G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.4084G>A MANE Select NP_065988.1:p.Asp1362Asn
ENST00000267430.10:c.4084G>A MANE Select ENSP00000267430.5:p.Asp1362Asn
NM_001308133.1:c.4006G>A NP_001295062.1:p.Asp1336Asn
NM_001308133.2:c.4006G>A NP_001295062.1:p.Asp1336Asn
NM_020937.2:c.4084G>A , LRG_502t1:c.4084G>A NP_065988.1:p.Asp1362Asn
NM_020937.3:c.4084G>A NP_065988.1:p.Asp1362Asn
ENST00000267430.9:c.4084G>A ENSP00000267430.5:p.Asp1362Asn
ENST00000542564.6:c.4006G>A ENSP00000442493.2:p.Asp1336Asn
ENST00000554809.5:c.881G>A
ENST00000554809.6:c.2296G>A ENSP00000450632.2:p.Asp766Asn
ENST00000556250.5:c.2632G>A ENSP00000452033.1:p.Asp878Asn
ENST00000556250.6:c.3877G>A ENSP00000452033.2:p.Asp1293Asn
ENST00000696641.1:c.3925G>A ENSP00000512774.1:p.Asp1309Asn
ENST00000696642.1:c.*2895G>A ENSP00000512775.1:n.*2895G>A
ENST00000696646.1:c.*2895G>A ENSP00000512777.1:n.*2895G>A
ENST00000696647.1:c.4084G>A ENSP00000512778.1:p.Asp1362Asn
ENST00000696648.1:c.*2109G>A ENSP00000512779.1:n.*2109G>A
ENST00000696649.1:c.3928G>A ENSP00000512780.1:p.Asp1310Asn
ENST00000696650.1:n.4032G>A
ENST00000696659.1:c.2082G>A
ENST00000696663.1:c.2901G>A
ENST00000696664.1:c.2901G>A
ENST00000696675.1:c.4084G>A ENSP00000512799.1:p.Asp1362Asn
ENST00000696683.1:c.2901G>A
ENST00000696684.1:c.2901G>A
ENST00000696685.1:c.2901G>A
XM_011537034.1:c.4084G>A XP_011535336.1:p.Asp1362Asn
XM_011537034.2:c.4084G>A XP_011535336.1:p.Asp1362Asn
XM_011537035.1:c.4006G>A XP_011535337.1:p.Asp1336Asn
XM_011537035.3:c.4006G>A XP_011535337.1:p.Asp1336Asn
XM_011537036.1:c.4084G>A XP_011535338.1:p.Asp1362Asn
XM_011537037.1:c.2098G>A XP_011535339.1:p.Asp700Asn
XM_011537037.3:c.2098G>A XP_011535339.1:p.Asp700Asn
XM_017021523.1:c.4084G>A XP_016877012.1:p.Asp1362Asn
XM_017021524.2:c.3121G>A XP_016877013.1:p.Asp1041Asn
XM_017021525.2:c.2899G>A XP_016877014.1:p.Asp967Asn
XM_017021526.2:c.2899G>A XP_016877015.1:p.Asp967Asn
XM_017021527.1:c.2899G>A XP_016877016.1:p.Asp967Asn
XR_001750470.1:n.4176G>A
XR_001750471.2:n.4176G>A
XR_001750472.1:n.4176G>A