Canonical Allele Identifier: CA10616754
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346836
dbSNP Id: rs4988463
gnomAD v2: 3-87308905-A-T
gnomAD v3: 3-87259755-A-T
gnomAD v4: 3-87259755-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259755A>T , CM000665.2:g.87259755A>T GRCh38
NC_000003.11:g.87308905A>T , CM000665.1:g.87308905A>T GRCh37
NC_000003.10:g.87391595A>T NCBI36
NG_008225.2:g.21833T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*139T>A ENSP00000342931.3:n.*139T>A
ENST00000350375.7:c.*139T>A MANE Select ENSP00000263781.2:n.*139T>A
ENST00000344265.7:c.*139T>A ENSP00000342931.3:n.*139T>A
ENST00000350375.6:c.*139T>A ENSP00000263781.2:n.*139T>A
NM_000306.3:c.*139T>A NP_000297.1:n.*139T>A
NM_001122757.2:c.*139T>A NP_001116229.1:n.*139T>A
NM_000306.4:c.*139T>A MANE Select NP_000297.1:n.*139T>A
NM_001122757.3:c.*139T>A NP_001116229.1:n.*139T>A