Canonical Allele Identifier: CA2501102

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2965582
• ClinVar RCV Id: RCV003825732
• dbSNP Id: rs201995103
• ExAC: 3:87309260 G / C
• gnomAD v2: 3-87309260-G-C
• gnomAD v4: 3-87260110-G-C
• MyVariant Identifiers: chr3:g.87309260G>C (hg19) ; chr3:g.87260110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260110G>C , CM000665.2:g.87260110G>C	GRCh38
NC_000003.11:g.87309260G>C , CM000665.1:g.87309260G>C	GRCh37
NC_000003.10:g.87391950G>C	NCBI36
NG_008225.2:g.21478C>G

Transcript Alleles

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