Canonical Allele Identifier: CA353698239

Gene: POU1F1

Linked Data

• dbSNP Id: rs1211117663
• gnomAD v3: 3-87260028-C-T
• gnomAD v4: 3-87260028-C-T
• MyVariant Identifiers: chr3:g.87309178C>T (hg19) ; chr3:g.87260028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260028C>T , CM000665.2:g.87260028C>T	GRCh38
NC_000003.11:g.87309178C>T , CM000665.1:g.87309178C>T	GRCh37
NC_000003.10:g.87391868C>T	NCBI36
NG_008225.2:g.21560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.820G>A	ENSP00000342931.3:p.Ala274Thr
ENST00000350375.7:c.742G>A MANE Select	ENSP00000263781.2:p.Ala248Thr
ENST00000344265.7:c.820G>A	ENSP00000342931.3:p.Ala274Thr
ENST00000350375.6:c.742G>A	ENSP00000263781.2:p.Ala248Thr
ENST00000560656.1:c.516G>A	ENSP00000452610.1:n.516G>A
ENST00000561167.5:c.517G>A	ENSP00000454072.1:p.Ala173Thr
NM_000306.3:c.742G>A	NP_000297.1:p.Ala248Thr
NM_001122757.2:c.820G>A	NP_001116229.1:p.Ala274Thr
NM_000306.4:c.742G>A MANE Select	NP_000297.1:p.Ala248Thr
NM_001122757.3:c.820G>A	NP_001116229.1:p.Ala274Thr