Canonical Allele Identifier: CA2501108

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2868363
• ClinVar RCV Id: RCV003697871
• dbSNP Id: rs750994575
• ExAC: 3:87309270 C / T
• gnomAD v2: 3-87309270-C-T
• gnomAD v4: 3-87260120-C-T
• MyVariant Identifiers: chr3:g.87309270C>T (hg19) ; chr3:g.87260120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260120C>T , CM000665.2:g.87260120C>T	GRCh38
NC_000003.11:g.87309270C>T , CM000665.1:g.87309270C>T	GRCh37
NC_000003.10:g.87391960C>T	NCBI36
NG_008225.2:g.21468G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.744-16G>A	ENSP00000342931.3:n.744-16G>A
ENST00000350375.7:c.666-16G>A MANE Select	ENSP00000263781.2:n.666-16G>A
ENST00000344265.7:c.744-16G>A	ENSP00000342931.3:n.744-16G>A
ENST00000350375.6:c.666-16G>A	ENSP00000263781.2:n.666-16G>A
ENST00000560656.1:c.440-16G>A	ENSP00000452610.1:n.440-16G>A
ENST00000561167.5:c.441-16G>A	ENSP00000454072.1:n.441-16G>A
NM_000306.3:c.666-16G>A	NP_000297.1:n.666-16G>A
NM_001122757.2:c.744-16G>A	NP_001116229.1:n.744-16G>A
NM_000306.4:c.666-16G>A MANE Select	NP_000297.1:n.666-16G>A
NM_001122757.3:c.744-16G>A	NP_001116229.1:n.744-16G>A