Canonical Allele Identifier: CA544800879
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1207864620
gnomAD v2: 3-87308820-C-T
gnomAD v3: 3-87259670-C-T
gnomAD v4: 3-87259670-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259670C>T , CM000665.2:g.87259670C>T GRCh38
NC_000003.11:g.87308820C>T , CM000665.1:g.87308820C>T GRCh37
NC_000003.10:g.87391510C>T NCBI36
NG_008225.2:g.21918G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*224G>A ENSP00000342931.3:n.*224G>A
ENST00000350375.7:c.*224G>A MANE Select ENSP00000263781.2:n.*224G>A
ENST00000350375.6:c.*224G>A ENSP00000263781.2:n.*224G>A
NM_000306.3:c.*224G>A NP_000297.1:n.*224G>A
NM_001122757.2:c.*224G>A NP_001116229.1:n.*224G>A
NM_000306.4:c.*224G>A MANE Select NP_000297.1:n.*224G>A
NM_001122757.3:c.*224G>A NP_001116229.1:n.*224G>A