Canonical Allele Identifier: CA79036449
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2715656
ClinVar RCV Id: RCV003545833
dbSNP Id: rs182127067
gnomAD v2: 3-87309262-G-T
gnomAD v3: 3-87260112-G-T
gnomAD v4: 3-87260112-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260112G>T , CM000665.2:g.87260112G>T GRCh38
NC_000003.11:g.87309262G>T , CM000665.1:g.87309262G>T GRCh37
NC_000003.10:g.87391952G>T NCBI36
NG_008225.2:g.21476C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.744-8C>A ENSP00000342931.3:n.744-8C>A
ENST00000350375.7:c.666-8C>A MANE Select ENSP00000263781.2:n.666-8C>A
ENST00000344265.7:c.744-8C>A ENSP00000342931.3:n.744-8C>A
ENST00000350375.6:c.666-8C>A ENSP00000263781.2:n.666-8C>A
ENST00000560656.1:c.440-8C>A ENSP00000452610.1:n.440-8C>A
ENST00000561167.5:c.441-8C>A ENSP00000454072.1:n.441-8C>A
NM_000306.3:c.666-8C>A NP_000297.1:n.666-8C>A
NM_001122757.2:c.744-8C>A NP_001116229.1:n.744-8C>A
NM_000306.4:c.666-8C>A MANE Select NP_000297.1:n.666-8C>A
NM_001122757.3:c.744-8C>A NP_001116229.1:n.744-8C>A