Canonical Allele Identifier: CA361622239

Gene: POU4F3

Linked Data

• dbSNP Id: rs1227586053
• gnomAD v2: 5-145719754-C-T
• gnomAD v4: 5-146340191-C-T
• MyVariant Identifiers: chr5:g.145719754C>T (hg19) ; chr5:g.146340191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340191C>T , CM000667.2:g.146340191C>T	GRCh38
NC_000005.9:g.145719754C>T , CM000667.1:g.145719754C>T	GRCh37
NC_000005.8:g.145699947C>T	NCBI36
NG_011885.1:g.6168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646991.2:c.764C>T MANE Select	ENSP00000495718.1:p.Ala255Val
ENST00000230732.4:c.764C>T	ENSP00000230732.4:p.Ala255Val
NM_002700.2:c.764C>T	NP_002691.1:p.Ala255Val
NM_002700.3:c.764C>T MANE Select	NP_002691.1:p.Ala255Val