Canonical Allele Identifier: CA70049495

Gene: VHL

Linked Data

• ClinVar Variation Id: 496065
• ClinVar RCV Id: RCV000589290 ; RCV000767268
• dbSNP Id: rs5030833
• COSMIC: COSM17971
• MyVariant Identifiers: chr3:g.10188264T>G (hg19) ; chr3:g.10146580T>G (hg38)
• CIViC: CA70049495
• PCER: P-CER:CA70049495/193300
• PubMed: PMID:7977367 ; PMID:8956040 ; PMID:10567493 ; PMID:10766184 ; PMID:11409863 ; PMID:12000816 ; PMID:14556007 ; PMID:18836774 ; PMID:20846682

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146580T>G , CM000665.2:g.10146580T>G	GRCh38
NC_000003.11:g.10188264T>G , CM000665.1:g.10188264T>G	GRCh37
NC_000003.10:g.10163264T>G	NCBI36
NG_008212.3:g.9946T>G , LRG_322:g.9946T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*84T>G	ENSP00000512434.1:n.*84T>G
ENST00000696143.1:c.600-3207T>G	ENSP00000512435.1:n.600-3207T>G
ENST00000696153.1:c.407T>G	ENSP00000512444.1:p.Phe136Cys
ENST00000256474.3:c.407T>G MANE Select	ENSP00000256474.3:p.Phe136Cys
ENST00000256474.2:c.407T>G	ENSP00000256474.2:p.Phe136Cys
ENST00000345392.2:c.341-3207T>G	ENSP00000344757.2:n.341-3207T>G
ENST00000477538.1:n.543T>G
NM_000551.3:c.407T>G , LRG_322t1:c.407T>G	NP_000542.1:p.Phe136Cys
NM_198156.2:c.341-3207T>G	NP_937799.1:n.341-3207T>G
XM_011534078.1:c.*84T>G	XP_011532380.1:n.*84T>G
NM_001354723.1:c.*18-3207T>G	NP_001341652.1:n.*18-3207T>G
NM_000551.4:c.407T>G MANE Select	NP_000542.1:p.Phe136Cys
NM_001354723.2:c.*18-3207T>G	NP_001341652.1:n.*18-3207T>G
NM_198156.3:c.341-3207T>G	NP_937799.1:n.341-3207T>G