Canonical Allele Identifier: CA389604108
Community Standard Title: NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45176808A>T , CM000676.2:g.45176808A>T GRCh38
NC_000014.8:g.45646011A>T , CM000676.1:g.45646011A>T GRCh37
NC_000014.7:g.44715761A>T NCBI36
NG_007417.1:g.45876A>T , LRG_502:g.45876A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.4054A>T MANE Select NP_065988.1:p.Lys1352Ter
ENST00000267430.10:c.4054A>T MANE Select ENSP00000267430.5:p.Lys1352Ter
NM_001308133.1:c.3976A>T NP_001295062.1:p.Lys1326Ter
NM_001308133.2:c.3976A>T NP_001295062.1:p.Lys1326Ter
NM_020937.2:c.4054A>T , LRG_502t1:c.4054A>T NP_065988.1:p.Lys1352Ter
NM_020937.3:c.4054A>T NP_065988.1:p.Lys1352Ter
ENST00000267430.9:c.4054A>T ENSP00000267430.5:p.Lys1352Ter
ENST00000542564.6:c.3976A>T ENSP00000442493.2:p.Lys1326Ter
ENST00000554809.5:c.851A>T
ENST00000554809.6:c.2266A>T ENSP00000450632.2:p.Lys756Ter
ENST00000556250.5:c.2602A>T ENSP00000452033.1:p.Lys868Ter
ENST00000556250.6:c.3847A>T ENSP00000452033.2:p.Lys1283Ter
ENST00000696641.1:c.3895A>T ENSP00000512774.1:p.Lys1299Ter
ENST00000696642.1:c.*2865A>T ENSP00000512775.1:n.*2865A>T
ENST00000696646.1:c.*2865A>T ENSP00000512777.1:n.*2865A>T
ENST00000696647.1:c.4054A>T ENSP00000512778.1:p.Lys1352Ter
ENST00000696648.1:c.*2079A>T ENSP00000512779.1:n.*2079A>T
ENST00000696649.1:c.3898A>T ENSP00000512780.1:p.Lys1300Ter
ENST00000696650.1:n.4002A>T
ENST00000696659.1:c.2052A>T
ENST00000696663.1:c.2871A>T
ENST00000696664.1:c.2871A>T
ENST00000696675.1:c.4054A>T ENSP00000512799.1:p.Lys1352Ter
ENST00000696683.1:c.2871A>T
ENST00000696684.1:c.2871A>T
ENST00000696685.1:c.2871A>T
XM_011537034.1:c.4054A>T XP_011535336.1:p.Lys1352Ter
XM_011537034.2:c.4054A>T XP_011535336.1:p.Lys1352Ter
XM_011537035.1:c.3976A>T XP_011535337.1:p.Lys1326Ter
XM_011537035.3:c.3976A>T XP_011535337.1:p.Lys1326Ter
XM_011537036.1:c.4054A>T XP_011535338.1:p.Lys1352Ter
XM_011537037.1:c.2068A>T XP_011535339.1:p.Lys690Ter
XM_011537037.3:c.2068A>T XP_011535339.1:p.Lys690Ter
XM_017021523.1:c.4054A>T XP_016877012.1:p.Lys1352Ter
XM_017021524.2:c.3091A>T XP_016877013.1:p.Lys1031Ter
XM_017021525.2:c.2869A>T XP_016877014.1:p.Lys957Ter
XM_017021526.2:c.2869A>T XP_016877015.1:p.Lys957Ter
XM_017021527.1:c.2869A>T XP_016877016.1:p.Lys957Ter
XR_001750470.1:n.4146A>T
XR_001750471.2:n.4146A>T
XR_001750472.1:n.4146A>T