Canonical Allele Identifier: CA361620149
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216958
ClinVar RCV Id: RCV004514821
dbSNP Id: rs1312443545
gnomAD v2: 5-145719156-C-A
gnomAD v4: 5-146339593-C-A
MyVariant Identifiers: chr5:g.145719156C>A (hg19) chr5:g.146339593C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339593C>A , CM000667.2:g.146339593C>A GRCh38
NC_000005.9:g.145719156C>A , CM000667.1:g.145719156C>A GRCh37
NC_000005.8:g.145699349C>A NCBI36
NG_011885.1:g.5570C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.166C>A MANE Select ENSP00000495718.1:p.Arg56Ser
ENST00000230732.4:c.166C>A ENSP00000230732.4:p.Arg56Ser
NM_002700.2:c.166C>A NP_002691.1:p.Arg56Ser
NM_002700.3:c.166C>A MANE Select NP_002691.1:p.Arg56Ser
Search 100 bp 5'
Search 100 bp 3'