Canonical Allele Identifier: CA203213

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 198069
• ClinVar RCV Id: RCV000179288 ; RCV000281196 ; RCV000363552 ; RCV000712842 ; RCV001143926
• dbSNP Id: rs76296626
• ExAC: 3:87309259 C / T
• gnomAD v2: 3-87309259-C-T
• gnomAD v3: 3-87260109-C-T
• gnomAD v4: 3-87260109-C-T
• MyVariant Identifiers: chr3:g.87309259C>T (hg19) ; chr3:g.87309259_87309260delinsTG (hg19) ; chr3:g.87260109C>T (hg38) ; chr3:g.87260109_87260110delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260109C>T , CM000665.2:g.87260109C>T	GRCh38
NC_000003.11:g.87309259C>T , CM000665.1:g.87309259C>T	GRCh37
NC_000003.10:g.87391949C>T	NCBI36
NG_008225.2:g.21479G>A

Transcript Alleles

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