Canonical Allele Identifier: CA2501146

Gene: POU1F1

Linked Data

• dbSNP Id: rs754822177
• ExAC: 3:87311174 T / G
• gnomAD v3: 3-87262024-T-G
• gnomAD v4: 3-87262024-T-G
• MyVariant Identifiers: chr3:g.87311174T>G (hg19) ; chr3:g.87262024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262024T>G , CM000665.2:g.87262024T>G	GRCh38
NC_000003.11:g.87311174T>G , CM000665.1:g.87311174T>G	GRCh37
NC_000003.10:g.87393864T>G	NCBI36
NG_008225.2:g.19564A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.682+47A>C	ENSP00000342931.3:n.682+47A>C
ENST00000350375.7:c.604+47A>C MANE Select	ENSP00000263781.2:n.604+47A>C
ENST00000344265.7:c.682+47A>C	ENSP00000342931.3:n.682+47A>C
ENST00000350375.6:c.604+47A>C	ENSP00000263781.2:n.604+47A>C
ENST00000560656.1:c.440-1920A>C	ENSP00000452610.1:n.440-1920A>C
ENST00000561167.5:c.379+47A>C	ENSP00000454072.1:n.379+47A>C
NM_000306.3:c.604+47A>C	NP_000297.1:n.604+47A>C
NM_001122757.2:c.682+47A>C	NP_001116229.1:n.682+47A>C
NM_000306.4:c.604+47A>C MANE Select	NP_000297.1:n.604+47A>C
NM_001122757.3:c.682+47A>C	NP_001116229.1:n.682+47A>C