Canonical Allele Identifier: CA389595883
Community Standard Title: NM_020937.4(FANCM):c.2033G>A (p.Trp678Ter)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45170619G>A , CM000676.2:g.45170619G>A GRCh38
NC_000014.8:g.45639822G>A , CM000676.1:g.45639822G>A GRCh37
NC_000014.7:g.44709572G>A NCBI36
NG_007417.1:g.39687G>A , LRG_502:g.39687G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.2033G>A MANE Select NP_065988.1:p.Trp678Ter
ENST00000267430.10:c.2033G>A MANE Select ENSP00000267430.5:p.Trp678Ter
NM_001308133.1:c.1955G>A NP_001295062.1:p.Trp652Ter
NM_001308133.2:c.1955G>A NP_001295062.1:p.Trp652Ter
NM_020937.2:c.2033G>A , LRG_502t1:c.2033G>A NP_065988.1:p.Trp678Ter
NM_020937.3:c.2033G>A NP_065988.1:p.Trp678Ter
ENST00000267430.9:c.2033G>A ENSP00000267430.5:p.Trp678Ter
ENST00000542564.6:c.1955G>A ENSP00000442493.2:p.Trp652Ter
ENST00000554809.6:c.245G>A ENSP00000450632.2:p.Trp82Ter
ENST00000556250.5:c.581G>A ENSP00000452033.1:p.Trp194Ter
ENST00000556250.6:c.1826G>A ENSP00000452033.2:p.Trp609Ter
ENST00000696641.1:c.1874G>A ENSP00000512774.1:p.Trp625Ter
ENST00000696642.1:c.*844G>A ENSP00000512775.1:n.*844G>A
ENST00000696646.1:c.*844G>A ENSP00000512777.1:n.*844G>A
ENST00000696647.1:c.2033G>A ENSP00000512778.1:p.Trp678Ter
ENST00000696648.1:c.*58G>A ENSP00000512779.1:n.*58G>A
ENST00000696649.1:c.2033G>A ENSP00000512780.1:p.Trp678Ter
ENST00000696650.1:n.1981G>A
ENST00000696658.1:n.2583G>A
ENST00000696659.1:c.31G>A
ENST00000696663.1:c.850G>A
ENST00000696664.1:c.850G>A
ENST00000696675.1:c.2033G>A ENSP00000512799.1:p.Trp678Ter
ENST00000696683.1:c.850G>A
ENST00000696684.1:c.850G>A
ENST00000696685.1:c.850G>A
XM_011537034.1:c.2033G>A XP_011535336.1:p.Trp678Ter
XM_011537034.2:c.2033G>A XP_011535336.1:p.Trp678Ter
XM_011537035.1:c.1955G>A XP_011535337.1:p.Trp652Ter
XM_011537035.3:c.1955G>A XP_011535337.1:p.Trp652Ter
XM_011537036.1:c.2033G>A XP_011535338.1:p.Trp678Ter
XM_011537037.1:c.47G>A XP_011535339.1:p.Trp16Ter
XM_011537037.3:c.47G>A XP_011535339.1:p.Trp16Ter
XM_017021523.1:c.2033G>A XP_016877012.1:p.Trp678Ter
XM_017021524.2:c.1070G>A XP_016877013.1:p.Trp357Ter
XM_017021525.2:c.848G>A XP_016877014.1:p.Trp283Ter
XM_017021526.2:c.848G>A XP_016877015.1:p.Trp283Ter
XM_017021527.1:c.848G>A XP_016877016.1:p.Trp283Ter
XR_001750470.1:n.2125G>A
XR_001750471.2:n.2125G>A
XR_001750472.1:n.2125G>A