Canonical Allele Identifier: CA353698235

Gene: POU1F1

Linked Data

• dbSNP Id: rs1706478046
• gnomAD v4: 3-87260027-G-A
• MyVariant Identifiers: chr3:g.87309177G>A (hg19) ; chr3:g.87260027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260027G>A , CM000665.2:g.87260027G>A	GRCh38
NC_000003.11:g.87309177G>A , CM000665.1:g.87309177G>A	GRCh37
NC_000003.10:g.87391867G>A	NCBI36
NG_008225.2:g.21561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.821C>T	ENSP00000342931.3:p.Ala274Val
ENST00000350375.7:c.743C>T MANE Select	ENSP00000263781.2:p.Ala248Val
ENST00000344265.7:c.821C>T	ENSP00000342931.3:p.Ala274Val
ENST00000350375.6:c.743C>T	ENSP00000263781.2:p.Ala248Val
ENST00000560656.1:c.517C>T	ENSP00000452610.1:n.517C>T
ENST00000561167.5:c.518C>T	ENSP00000454072.1:p.Ala173Val
NM_000306.3:c.743C>T	NP_000297.1:p.Ala248Val
NM_001122757.2:c.821C>T	NP_001116229.1:p.Ala274Val
NM_000306.4:c.743C>T MANE Select	NP_000297.1:p.Ala248Val
NM_001122757.3:c.821C>T	NP_001116229.1:p.Ala274Val