Canonical Allele Identifier: CA255979
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 11681
ClinVar RCV Id: RCV000012447
dbSNP Id: rs730882189
MyVariant Identifiers: chrX:g.82764194_82764197del (hg19) chrX:g.83509186_83509189del (hg38)
PubMed: PMID:7581392
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83509186_83509189del , CM000685.2:g.83509186_83509189del GRCh38
NC_000023.10:g.82764194_82764197del , CM000685.1:g.82764194_82764197del GRCh37
NC_000023.9:g.82650850_82650853del NCBI36
NG_009936.2:g.5926_5929del

Transcript Alleles

HGVS Amino-acid change
ENST00000644024.2:c.862_865del MANE Select ENSP00000495996.1:p.Val289ArgfsTer?
ENST00000373200.4:c.862_865del ENSP00000362296.2:p.Val289ArgfsTer?
NM_000307.4:c.862_865del NP_000298.3:p.Val289ArgfsTer?
NM_000307.5:c.862_865del MANE Select NP_000298.3:p.Val289ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'