Canonical Allele Identifier: CA389603953
Community Standard Title: NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45176770C>T , CM000676.2:g.45176770C>T GRCh38
NC_000014.8:g.45645973C>T , CM000676.1:g.45645973C>T GRCh37
NC_000014.7:g.44715723C>T NCBI36
NG_007417.1:g.45838C>T , LRG_502:g.45838C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.4016C>T MANE Select NP_065988.1:p.Thr1339Ile
ENST00000267430.10:c.4016C>T MANE Select ENSP00000267430.5:p.Thr1339Ile
NM_001308133.1:c.3938C>T NP_001295062.1:p.Thr1313Ile
NM_001308133.2:c.3938C>T NP_001295062.1:p.Thr1313Ile
NM_020937.2:c.4016C>T , LRG_502t1:c.4016C>T NP_065988.1:p.Thr1339Ile
NM_020937.3:c.4016C>T NP_065988.1:p.Thr1339Ile
ENST00000267430.9:c.4016C>T ENSP00000267430.5:p.Thr1339Ile
ENST00000542564.6:c.3938C>T ENSP00000442493.2:p.Thr1313Ile
ENST00000554809.5:c.813C>T
ENST00000554809.6:c.2228C>T ENSP00000450632.2:p.Thr743Ile
ENST00000556250.5:c.2564C>T ENSP00000452033.1:p.Thr855Ile
ENST00000556250.6:c.3809C>T ENSP00000452033.2:p.Thr1270Ile
ENST00000696641.1:c.3857C>T ENSP00000512774.1:p.Thr1286Ile
ENST00000696642.1:c.*2827C>T ENSP00000512775.1:n.*2827C>T
ENST00000696646.1:c.*2827C>T ENSP00000512777.1:n.*2827C>T
ENST00000696647.1:c.4016C>T ENSP00000512778.1:p.Thr1339Ile
ENST00000696648.1:c.*2041C>T ENSP00000512779.1:n.*2041C>T
ENST00000696649.1:c.3860C>T ENSP00000512780.1:p.Thr1287Ile
ENST00000696650.1:n.3964C>T
ENST00000696659.1:c.2014C>T
ENST00000696663.1:c.2833C>T
ENST00000696664.1:c.2833C>T
ENST00000696675.1:c.4016C>T ENSP00000512799.1:p.Thr1339Ile
ENST00000696683.1:c.2833C>T
ENST00000696684.1:c.2833C>T
ENST00000696685.1:c.2833C>T
XM_011537034.1:c.4016C>T XP_011535336.1:p.Thr1339Ile
XM_011537034.2:c.4016C>T XP_011535336.1:p.Thr1339Ile
XM_011537035.1:c.3938C>T XP_011535337.1:p.Thr1313Ile
XM_011537035.3:c.3938C>T XP_011535337.1:p.Thr1313Ile
XM_011537036.1:c.4016C>T XP_011535338.1:p.Thr1339Ile
XM_011537037.1:c.2030C>T XP_011535339.1:p.Thr677Ile
XM_011537037.3:c.2030C>T XP_011535339.1:p.Thr677Ile
XM_017021523.1:c.4016C>T XP_016877012.1:p.Thr1339Ile
XM_017021524.2:c.3053C>T XP_016877013.1:p.Thr1018Ile
XM_017021525.2:c.2831C>T XP_016877014.1:p.Thr944Ile
XM_017021526.2:c.2831C>T XP_016877015.1:p.Thr944Ile
XM_017021527.1:c.2831C>T XP_016877016.1:p.Thr944Ile
XR_001750470.1:n.4108C>T
XR_001750471.2:n.4108C>T
XR_001750472.1:n.4108C>T