Canonical Allele Identifier: CA020446

Gene: VHL

Linked Data

• ClinVar Variation Id: 2219
• ClinVar RCV Id: RCV000002304 ; RCV000466046 ; RCV002336073
• dbSNP Id: rs5030820
• COSMIC: COSM25673
• MyVariant Identifiers: chr3:g.10191506C>G (hg19) ; chr3:g.10149822C>G (hg38)
• CIViC: CA020446
• PCER: P-CER:CA020446/193300
• PubMed: PMID:7784063 ; PMID:8270255

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149822C>G , CM000665.2:g.10149822C>G	GRCh38
NC_000003.11:g.10191506C>G , CM000665.1:g.10191506C>G	GRCh37
NC_000003.10:g.10166506C>G	NCBI36
NG_008212.3:g.13188C>G , LRG_322:g.13188C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*176C>G	ENSP00000512434.1:n.*176C>G
ENST00000696143.1:c.635C>G	ENSP00000512435.1:n.635C>G
ENST00000696153.1:c.610C>G	ENSP00000512444.1:p.Arg204Gly
ENST00000256474.3:c.499C>G MANE Select	ENSP00000256474.3:p.Arg167Gly
ENST00000256474.2:c.499C>G	ENSP00000256474.2:p.Arg167Gly
ENST00000345392.2:c.376C>G	ENSP00000344757.2:p.Arg126Gly
ENST00000477538.1:n.635C>G
NM_000551.3:c.499C>G , LRG_322t1:c.499C>G	NP_000542.1:p.Arg167Gly
NM_198156.2:c.376C>G	NP_937799.1:p.Arg126Gly
NM_001354723.1:c.*53C>G	NP_001341652.1:n.*53C>G
NM_000551.4:c.499C>G MANE Select	NP_000542.1:p.Arg167Gly
NM_001354723.2:c.*53C>G	NP_001341652.1:n.*53C>G
NM_198156.3:c.376C>G	NP_937799.1:p.Arg126Gly