Canonical Allele Identifier: CA1090550

Gene: PSMB4

Linked Data

• ClinVar Variation Id: 1165367
• ClinVar RCV Id: RCV001512428 ; RCV003931063
• dbSNP Id: rs188568243
• ExAC: 1:151372081 G / A
• gnomAD v2: 1-151372081-G-A
• gnomAD v3: 1-151399605-G-A
• gnomAD v4: 1-151399605-G-A
• COSMIC: COSM2183500
• MyVariant Identifiers: chr1:g.151372081G>A (hg19) ; chr1:g.151399605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151399605G>A , CM000663.2:g.151399605G>A	GRCh38
NC_000001.10:g.151372081G>A , CM000663.1:g.151372081G>A	GRCh37
NC_000001.9:g.149638705G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290541.7:c.18G>A MANE Select	ENSP00000290541.6:p.Gly6=
ENST00000290541.6:c.18G>A	ENSP00000290541.6:p.Gly6=
ENST00000476467.1:n.19G>A
ENST00000493673.1:n.16G>A
ENST00000495288.5:n.46G>A
ENST00000495805.5:n.27G>A
NM_002796.2:c.18G>A	NP_002787.2:p.Gly6=
NM_002796.3:c.18G>A MANE Select	NP_002787.2:p.Gly6=