Canonical Allele Identifier: CA528197826

Gene: MDM4

Linked Data

• dbSNP Id: rs1563828
• gnomAD v2: 1-204516577-A-T
• gnomAD v3: 1-204547449-A-T
• gnomAD v4: 1-204547449-A-T
• MyVariant Identifiers: chr1:g.204516577A>T (hg19) ; chr1:g.204547449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204547449A>T , CM000663.2:g.204547449A>T	GRCh38
NC_000001.10:g.204516577A>T , CM000663.1:g.204516577A>T	GRCh37
NC_000001.9:g.202783200A>T	NCBI36
NG_029367.1:g.36071A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367182.8:c.903+572A>T MANE Select	ENSP00000356150.3:n.903+572A>T
ENST00000367179.7:c.558+572A>T	ENSP00000356147.3:n.558+572A>T
ENST00000367182.7:c.903+572A>T	ENSP00000356150.3:n.903+572A>T
ENST00000367183.7:c.79-1817A>T	ENSP00000356151.3:n.79-1817A>T
ENST00000391947.6:c.*412+572A>T	ENSP00000375811.2:n.*412+572A>T
ENST00000444261.1:c.237+572A>T	ENSP00000395254.1:n.237+572A>T
ENST00000454264.6:c.753+572A>T	ENSP00000396840.2:n.753+572A>T
ENST00000463049.5:n.1013+572A>T
ENST00000612738.4:c.234+572A>T	ENSP00000478080.1:n.234+572A>T
ENST00000614459.4:c.609+572A>T	ENSP00000482388.1:n.609+572A>T
ENST00000616250.4:c.*73+572A>T	ENSP00000478581.1:n.*73+572A>T
ENST00000621032.4:c.*412+572A>T	ENSP00000482479.1:n.*412+572A>T
NM_001204171.1:c.753+572A>T	NP_001191100.1:n.753+572A>T
NM_001204172.1:c.79-1817A>T	NP_001191101.1:n.79-1817A>T
NM_001278516.1:c.*412+572A>T	NP_001265445.1:n.*412+572A>T
NM_001278517.1:c.609+572A>T	NP_001265446.1:n.609+572A>T
NM_001278518.1:c.*73+572A>T	NP_001265447.1:n.*73+572A>T
NM_001278519.1:c.234+572A>T	NP_001265448.1:n.234+572A>T
NM_002393.4:c.903+572A>T	NP_002384.2:n.903+572A>T
XM_006711328.1:c.888+572A>T	XP_006711391.1:n.888+572A>T
XM_011509565.1:c.903+572A>T	XP_011507867.1:n.903+572A>T
XM_011509566.1:c.*412+572A>T	XP_011507868.1:n.*412+572A>T
XM_017001311.1:c.957+572A>T	XP_016856800.1:n.957+572A>T
XM_017001312.1:c.942+572A>T	XP_016856801.1:n.942+572A>T
XM_017001313.1:c.807+572A>T	XP_016856802.1:n.807+572A>T
XM_024447114.1:c.903+572A>T	XP_024302882.1:n.903+572A>T
XM_024447115.1:c.903+572A>T	XP_024302883.1:n.903+572A>T
XR_001737179.1:n.1039+572A>T
XR_001737180.2:n.1024+572A>T
XR_001737181.1:n.1000+572A>T
XR_001737183.1:n.1026+572A>T
XR_002956626.1:n.985+572A>T
NM_002393.5:c.903+572A>T MANE Select	NP_002384.2:n.903+572A>T
NM_001204171.2:c.753+572A>T	NP_001191100.1:n.753+572A>T
NM_001204172.2:c.79-1817A>T	NP_001191101.1:n.79-1817A>T
NM_001278516.2:c.*412+572A>T	NP_001265445.1:n.*412+572A>T
NM_001278517.2:c.609+572A>T	NP_001265446.1:n.609+572A>T
NM_001278518.2:c.*73+572A>T	NP_001265447.1:n.*73+572A>T
NM_001278519.2:c.234+572A>T	NP_001265448.1:n.234+572A>T