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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000477538.1	VHL-003	958	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary