Canonical Allele Identifier: CA10617541
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346832
ClinVar RCV Id: RCV000270210
dbSNP Id: rs552876873
gnomAD v2: 3-87308903-T-A
gnomAD v3: 3-87259753-T-A
gnomAD v4: 3-87259753-T-A
COSMIC: COSN17883488
MyVariant Identifiers: chr3:g.87308903T>A (hg19) chr3:g.87259753T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259753T>A , CM000665.2:g.87259753T>A GRCh38
NC_000003.11:g.87308903T>A , CM000665.1:g.87308903T>A GRCh37
NC_000003.10:g.87391593T>A NCBI36
NG_008225.2:g.21835A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*141A>T ENSP00000342931.3:n.*141A>T
ENST00000350375.7:c.*141A>T MANE Select ENSP00000263781.2:n.*141A>T
ENST00000344265.7:c.*141A>T ENSP00000342931.3:n.*141A>T
ENST00000350375.6:c.*141A>T ENSP00000263781.2:n.*141A>T
NM_000306.3:c.*141A>T NP_000297.1:n.*141A>T
NM_001122757.2:c.*141A>T NP_001116229.1:n.*141A>T
NM_000306.4:c.*141A>T MANE Select NP_000297.1:n.*141A>T
NM_001122757.3:c.*141A>T NP_001116229.1:n.*141A>T
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