Canonical Allele Identifier: CA344368674
Community Standard Title: NM_002393.5(MDM4):c.1277A>C (p.Asn426Thr)
Gene: MDM4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204549486A>C , CM000663.2:g.204549486A>C GRCh38
NC_000001.10:g.204518614A>C , CM000663.1:g.204518614A>C GRCh37
NC_000001.9:g.202785237A>C NCBI36
NG_029367.1:g.38108A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002393.5:c.1277A>C MANE Select NP_002384.2:p.Asn426Thr
ENST00000367182.8:c.1277A>C MANE Select ENSP00000356150.3:p.Asn426Thr
NM_001204171.1:c.1127A>C NP_001191100.1:p.Asn376Thr
NM_001204171.2:c.1127A>C NP_001191100.1:p.Asn376Thr
NM_001204172.1:c.299A>C NP_001191101.1:p.Asn100Thr
NM_001204172.2:c.299A>C NP_001191101.1:p.Asn100Thr
NM_001278516.1:c.*786A>C NP_001265445.1:n.*786A>C
NM_001278516.2:c.*786A>C NP_001265445.1:n.*786A>C
NM_001278517.1:c.983A>C NP_001265446.1:p.Asn328Thr
NM_001278517.2:c.983A>C NP_001265446.1:p.Asn328Thr
NM_001278518.1:c.*447A>C NP_001265447.1:n.*447A>C
NM_001278518.2:c.*447A>C NP_001265447.1:n.*447A>C
NM_001278519.1:c.608A>C NP_001265448.1:p.Asn203Thr
NM_001278519.2:c.608A>C NP_001265448.1:p.Asn203Thr
NM_002393.4:c.1277A>C NP_002384.2:p.Asn426Thr
ENST00000367182.7:c.1277A>C ENSP00000356150.3:p.Asn426Thr
ENST00000367183.7:c.299A>C ENSP00000356151.3:p.Asn100Thr
ENST00000391947.6:c.*786A>C ENSP00000375811.2:n.*786A>C
ENST00000454264.6:c.1127A>C ENSP00000396840.2:p.Asn376Thr
ENST00000463049.5:n.1387A>C
ENST00000612738.4:c.608A>C ENSP00000478080.1:p.Asn203Thr
ENST00000614459.4:c.983A>C ENSP00000482388.1:p.Asn328Thr
ENST00000616250.4:c.*447A>C ENSP00000478581.1:n.*447A>C
ENST00000621032.4:c.*786A>C ENSP00000482479.1:n.*786A>C
XM_006711328.1:c.1262A>C XP_006711391.1:p.Asn421Thr
XM_011509565.1:c.953+324A>C XP_011507867.1:n.953+324A>C
XM_017001311.1:c.1331A>C XP_016856800.1:p.Asn444Thr
XM_017001312.1:c.1316A>C XP_016856801.1:p.Asn439Thr
XM_017001313.1:c.1181A>C XP_016856802.1:p.Asn394Thr
XM_024447114.1:c.1277A>C XP_024302882.1:p.Asn426Thr
XM_024447115.1:c.1277A>C XP_024302883.1:p.Asn426Thr
XR_001737179.1:n.1413A>C
XR_001737180.2:n.1398A>C
XR_001737181.1:n.1374A>C
XR_001737183.1:n.1400A>C
XR_002956626.1:n.1359A>C