Canonical Allele Identifier: CA1090538
Gene: PSMB4 HGNC NCBI
COSMIC:
COSN17076965 (not active)
COSN17077497 (not active)
COSN17077810 (not active)
MyVariant.info:
GRCh38 chr1:g.151399571C>T
GRCh37 chr1:g.151372047C>T
gnomAD v2:
1:151372047 C / T
gnomAD v3:
1:151399571 C / T
gnomAD v4:
chr1-151399571-C-T
Joint Max Group AF 0.44620676 (EAS)
Genomes Max Group AF 0.42270158 (EAS)
Exomes Max Group AF 0.44764514 (EAS)
ClinVar RCV:
RCV003405177
ClinVar Variation:
2637879
dbSNP:
2296840
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151399571C>T , CM000663.2:g.151399571C>T GRCh38
NC_000001.10:g.151372047C>T , CM000663.1:g.151372047C>T GRCh37
NC_000001.9:g.149638671C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290541.6:c.-17C>T ENSP00000290541.6:n.-17C>T
ENST00000495288.5:n.12C>T
NM_002796.2:c.-17C>T NP_002787.2:n.-17C>T
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