Canonical Allele Identifier: CA2501103

Gene: POU1F1

Linked Data

• dbSNP Id: rs762701632
• ExAC: 3:87309261 G / T
• gnomAD v2: 3-87309261-G-T
• gnomAD v4: 3-87260111-G-T
• MyVariant Identifiers: chr3:g.87309261G>T (hg19) ; chr3:g.87260111G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260111G>T , CM000665.2:g.87260111G>T	GRCh38
NC_000003.11:g.87309261G>T , CM000665.1:g.87309261G>T	GRCh37
NC_000003.10:g.87391951G>T	NCBI36
NG_008225.2:g.21477C>A

Transcript Alleles

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