Canonical Allele Identifier: CA79036422
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs566989622
gnomAD v3: 3-87259694-G-A
gnomAD v4: 3-87259694-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259694G>A , CM000665.2:g.87259694G>A GRCh38
NC_000003.11:g.87308844G>A , CM000665.1:g.87308844G>A GRCh37
NC_000003.10:g.87391534G>A NCBI36
NG_008225.2:g.21894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*200C>T ENSP00000342931.3:n.*200C>T
ENST00000350375.7:c.*200C>T MANE Select ENSP00000263781.2:n.*200C>T
ENST00000350375.6:c.*200C>T ENSP00000263781.2:n.*200C>T
NM_000306.3:c.*200C>T NP_000297.1:n.*200C>T
NM_001122757.2:c.*200C>T NP_001116229.1:n.*200C>T
NM_000306.4:c.*200C>T MANE Select NP_000297.1:n.*200C>T
NM_001122757.3:c.*200C>T NP_001116229.1:n.*200C>T