Canonical Allele Identifier: CA361622928
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1164004
ClinVar RCV Id: RCV001786490 RCV003442886
dbSNP Id: rs2126961983
gnomAD v4: 5-146340313-C-T
MyVariant Identifiers: chr5:g.145719876C>T (hg19) chr5:g.146340313C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340313C>T , CM000667.2:g.146340313C>T GRCh38
NC_000005.9:g.145719876C>T , CM000667.1:g.145719876C>T GRCh37
NC_000005.8:g.145700069C>T NCBI36
NG_011885.1:g.6290C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.886C>T MANE Select ENSP00000495718.1:p.Gln296Ter
ENST00000230732.4:c.886C>T ENSP00000230732.4:p.Gln296Ter
NM_002700.2:c.886C>T NP_002691.1:p.Gln296Ter
NM_002700.3:c.886C>T MANE Select NP_002691.1:p.Gln296Ter
Search 100 bp 5'
Search 100 bp 3'