Canonical Allele Identifier: CA1381564260

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2796849
• ClinVar RCV Id: RCV003670857
• dbSNP Id: rs1706482459
• gnomAD v4: 3-87260122-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260122T>C , CM000665.2:g.87260122T>C	GRCh38
NC_000003.11:g.87309272T>C , CM000665.1:g.87309272T>C	GRCh37
NC_000003.10:g.87391962T>C	NCBI36
NG_008225.2:g.21466A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.744-18A>G	ENSP00000342931.3:n.744-18A>G
ENST00000350375.7:c.666-18A>G MANE Select	ENSP00000263781.2:n.666-18A>G
ENST00000344265.7:c.744-18A>G	ENSP00000342931.3:n.744-18A>G
ENST00000350375.6:c.666-18A>G	ENSP00000263781.2:n.666-18A>G
ENST00000560656.1:c.440-18A>G	ENSP00000452610.1:n.440-18A>G
ENST00000561167.5:c.441-18A>G	ENSP00000454072.1:n.441-18A>G
NM_000306.3:c.666-18A>G	NP_000297.1:n.666-18A>G
NM_001122757.2:c.744-18A>G	NP_001116229.1:n.744-18A>G
NM_000306.4:c.666-18A>G MANE Select	NP_000297.1:n.666-18A>G
NM_001122757.3:c.744-18A>G	NP_001116229.1:n.744-18A>G