Canonical Allele Identifier: CA236239
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 191200
ClinVar RCV Id: RCV000171386
dbSNP Id: rs759091617
MyVariant Identifiers: chr5:g.145719838C>T (hg19) chr5:g.146340275C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340275C>T , CM000667.2:g.146340275C>T GRCh38
NC_000005.9:g.145719838C>T , CM000667.1:g.145719838C>T GRCh37
NC_000005.8:g.145700031C>T NCBI36
NG_011885.1:g.6252C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.848C>T MANE Select ENSP00000495718.1:p.Ala283Val
ENST00000230732.4:c.848C>T ENSP00000230732.4:p.Ala283Val
NM_002700.2:c.848C>T NP_002691.1:p.Ala283Val
NM_002700.3:c.848C>T MANE Select NP_002691.1:p.Ala283Val
Search 100 bp 5'
Search 100 bp 3'