Canonical Allele Identifier: CA447098004
Gene: POU4F3 HGNC NCBI

Linked Data

dbSNP Id: rs771372041
gnomAD v3: 5-146340168-G-A
gnomAD v4: 5-146340168-G-A
MyVariant Identifiers: chr5:g.145719731G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340168G>A , CM000667.2:g.146340168G>A GRCh38
NC_000005.9:g.145719731G>A , CM000667.1:g.145719731G>A GRCh37
NC_000005.8:g.145699924G>A NCBI36
NG_011885.1:g.6145G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.741G>A MANE Select ENSP00000495718.1:p.Val247=
ENST00000230732.4:c.741G>A ENSP00000230732.4:p.Val247=
NM_002700.2:c.741G>A NP_002691.1:p.Val247=
NM_002700.3:c.741G>A MANE Select NP_002691.1:p.Val247=
Search 100 bp 5'
Search 100 bp 3'