Canonical Allele Identifier: CA2501054
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs781336944
gnomAD v2: 3-87309010-C-T
gnomAD v3: 3-87259860-C-T
gnomAD v4: 3-87259860-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259860C>T , CM000665.2:g.87259860C>T GRCh38
NC_000003.11:g.87309010C>T , CM000665.1:g.87309010C>T GRCh37
NC_000003.10:g.87391700C>T NCBI36
NG_008225.2:g.21728G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*34G>A ENSP00000342931.3:n.*34G>A
ENST00000350375.7:c.*34G>A MANE Select ENSP00000263781.2:n.*34G>A
ENST00000344265.7:c.*34G>A ENSP00000342931.3:n.*34G>A
ENST00000350375.6:c.*34G>A ENSP00000263781.2:n.*34G>A
NM_000306.3:c.*34G>A NP_000297.1:n.*34G>A
NM_001122757.2:c.*34G>A NP_001116229.1:n.*34G>A
NM_000306.4:c.*34G>A MANE Select NP_000297.1:n.*34G>A
NM_001122757.3:c.*34G>A NP_001116229.1:n.*34G>A