Canonical Allele Identifier: CA361621223
Gene: POU4F3 HGNC NCBI

Linked Data

dbSNP Id: rs1760428719
gnomAD v3: 5-146339999-C-T
gnomAD v4: 5-146339999-C-T
MyVariant Identifiers: chr5:g.145719562C>T (hg19) chr5:g.146339999C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339999C>T , CM000667.2:g.146339999C>T GRCh38
NC_000005.9:g.145719562C>T , CM000667.1:g.145719562C>T GRCh37
NC_000005.8:g.145699755C>T NCBI36
NG_011885.1:g.5976C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.572C>T MANE Select ENSP00000495718.1:p.Ala191Val
ENST00000230732.4:c.572C>T ENSP00000230732.4:p.Ala191Val
NM_002700.2:c.572C>T NP_002691.1:p.Ala191Val
NM_002700.3:c.572C>T MANE Select NP_002691.1:p.Ala191Val
Search 100 bp 5'
Search 100 bp 3'