Canonical Allele Identifier: CA79036423
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs527903623
gnomAD v3: 3-87259698-A-C
gnomAD v4: 3-87259698-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259698A>C , CM000665.2:g.87259698A>C GRCh38
NC_000003.11:g.87308848A>C , CM000665.1:g.87308848A>C GRCh37
NC_000003.10:g.87391538A>C NCBI36
NG_008225.2:g.21890T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*196T>G ENSP00000342931.3:n.*196T>G
ENST00000350375.7:c.*196T>G MANE Select ENSP00000263781.2:n.*196T>G
ENST00000350375.6:c.*196T>G ENSP00000263781.2:n.*196T>G
NM_000306.3:c.*196T>G NP_000297.1:n.*196T>G
NM_001122757.2:c.*196T>G NP_001116229.1:n.*196T>G
NM_000306.4:c.*196T>G MANE Select NP_000297.1:n.*196T>G
NM_001122757.3:c.*196T>G NP_001116229.1:n.*196T>G