Canonical Allele Identifier: CA2501107
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2806905
ClinVar RCV Id: RCV003682015
dbSNP Id: rs200529199
ExAC: 3:87309265 G / T
gnomAD v2: 3-87309265-G-T
gnomAD v3: 3-87260115-G-T
gnomAD v4: 3-87260115-G-T
MyVariant Identifiers: chr3:g.87309265G>T (hg19) chr3:g.87260115G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260115G>T , CM000665.2:g.87260115G>T GRCh38
NC_000003.11:g.87309265G>T , CM000665.1:g.87309265G>T GRCh37
NC_000003.10:g.87391955G>T NCBI36
NG_008225.2:g.21473C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.744-11C>A ENSP00000342931.3:n.744-11C>A
ENST00000350375.7:c.666-11C>A MANE Select ENSP00000263781.2:n.666-11C>A
ENST00000344265.7:c.744-11C>A ENSP00000342931.3:n.744-11C>A
ENST00000350375.6:c.666-11C>A ENSP00000263781.2:n.666-11C>A
ENST00000560656.1:c.440-11C>A ENSP00000452610.1:n.440-11C>A
ENST00000561167.5:c.441-11C>A ENSP00000454072.1:n.441-11C>A
NM_000306.3:c.666-11C>A NP_000297.1:n.666-11C>A
NM_001122757.2:c.744-11C>A NP_001116229.1:n.744-11C>A
NM_000306.4:c.666-11C>A MANE Select NP_000297.1:n.666-11C>A
NM_001122757.3:c.744-11C>A NP_001116229.1:n.744-11C>A
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