Canonical Allele Identifier: CA3491212
Gene: POU4F3 HGNC NCBI

Linked Data

dbSNP Id: rs768769714
ExAC: 5:145719818 C / A
gnomAD v2: 5-145719818-C-A
gnomAD v4: 5-146340255-C-A
MyVariant Identifiers: chr5:g.145719818C>A (hg19) chr5:g.146340255C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340255C>A , CM000667.2:g.146340255C>A GRCh38
NC_000005.9:g.145719818C>A , CM000667.1:g.145719818C>A GRCh37
NC_000005.8:g.145700011C>A NCBI36
NG_011885.1:g.6232C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.828C>A MANE Select ENSP00000495718.1:p.Arg276=
ENST00000230732.4:c.828C>A ENSP00000230732.4:p.Arg276=
NM_002700.2:c.828C>A NP_002691.1:p.Arg276=
NM_002700.3:c.828C>A MANE Select NP_002691.1:p.Arg276=
Search 100 bp 5'
Search 100 bp 3'