Canonical Allele Identifier: CA2501106

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2801391
• ClinVar RCV Id: RCV003676083
• dbSNP Id: rs182127067
• ExAC: 3:87309262 G / A
• gnomAD v2: 3-87309262-G-A
• gnomAD v3: 3-87260112-G-A
• gnomAD v4: 3-87260112-G-A
• MyVariant Identifiers: chr3:g.87309262G>A (hg19) ; chr3:g.87260112G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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