Gene: VHL ENSG00000134086

Description

von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:12687]

Gene Synonyms

HRCA1, RCA1, VHL1, pVHL

Location

GRCh37:CM000665.1

About this gene

This gene has 3 transcripts (splice variants), 1 paralogue and is associated with 68 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000256474.2	VHL-001	3737	213aa	ENSP00000256474.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2597	A0PJF6 J9Z661 P40337	NM_000551.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000345392.2	VHL-002	2696	172aa	ENSP00000344757.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2598	A0PJF6 J9Z661 P40337	NM_198156.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000477538.1	VHL-003	958	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary