Canonical Allele Identifier: CA2601338977
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs2106930103
gnomAD v3: 3-87264232-G-A
gnomAD v4: 3-87264232-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87264232G>A , CM000665.2:g.87264232G>A GRCh38
NC_000003.11:g.87313382G>A , CM000665.1:g.87313382G>A GRCh37
NC_000003.10:g.87396072G>A NCBI36
NG_008225.2:g.17356C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.517+56C>T ENSP00000342931.3:n.517+56C>T
ENST00000350375.7:c.439+56C>T MANE Select ENSP00000263781.2:n.439+56C>T
ENST00000344265.7:c.517+56C>T ENSP00000342931.3:n.517+56C>T
ENST00000350375.6:c.439+56C>T ENSP00000263781.2:n.439+56C>T
ENST00000560656.1:c.439+56C>T ENSP00000452610.1:n.439+56C>T
ENST00000561167.5:c.215-1997C>T ENSP00000454072.1:n.215-1997C>T
NM_000306.3:c.439+56C>T NP_000297.1:n.439+56C>T
NM_001122757.2:c.517+56C>T NP_001116229.1:n.517+56C>T
NM_000306.4:c.439+56C>T MANE Select NP_000297.1:n.439+56C>T
NM_001122757.3:c.517+56C>T NP_001116229.1:n.517+56C>T