Canonical Allele Identifier: CA3491123
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2323944
ClinVar RCV Id: RCV002934365 RCV003228129
dbSNP Id: rs771471183
ExAC: 5:145719396 G / A
gnomAD v2: 5-145719396-G-A
gnomAD v3: 5-146339833-G-A
gnomAD v4: 5-146339833-G-A
MyVariant Identifiers: chr5:g.145719396G>A (hg19) chr5:g.146339833G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339833G>A , CM000667.2:g.146339833G>A GRCh38
NC_000005.9:g.145719396G>A , CM000667.1:g.145719396G>A GRCh37
NC_000005.8:g.145699589G>A NCBI36
NG_011885.1:g.5810G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.406G>A MANE Select ENSP00000495718.1:p.Glu136Lys
ENST00000230732.4:c.406G>A ENSP00000230732.4:p.Glu136Lys
NM_002700.2:c.406G>A NP_002691.1:p.Glu136Lys
NM_002700.3:c.406G>A MANE Select NP_002691.1:p.Glu136Lys
Search 100 bp 5'
Search 100 bp 3'