Canonical Allele Identifier: CA020450

Gene: VHL

Linked Data

• ClinVar Variation Id: 2218
• ClinVar RCV Id: RCV000002302 ; RCV000002303 ; RCV000132159 ; RCV000213079 ; RCV000435817 ; RCV000627746 ; RCV000763092 ; RCV003992144
• dbSNP Id: rs5030820
• ExAC: 3:10191506 C / T
• gnomAD v2: 3-10191506-C-T
• gnomAD v3: 3-10149822-C-T
• gnomAD v4: 3-10149822-C-T
• COSMIC: COSM14311
• MyVariant Identifiers: chr3:g.10191506C>T (hg19) ; chr3:g.10149822C>T (hg38)
• PCER: P-CER:CA020450/193300
• PubMed: PMID:7660122 ; PMID:7784063 ; PMID:7987306 ; PMID:8270255 ; PMID:8592333 ; PMID:8956040 ; PMID:9156047 ; PMID:10900011 ; PMID:12000816 ; PMID:14722919 ; PMID:15300849 ; PMID:17102069 ; PMID:18836774 ; PMID:19602254 ; PMID:22799452 ; PMID:23512077 ; PMID:25119015 ; PMID:25157968 ; PMID:25952756 ; PMID:26812297 ; PMID:26822237 ; PMID:27439424
• CIViC: CA020450

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*176C>T	ENSP00000512434.1:n.*176C>T
ENST00000696143.1:c.635C>T	ENSP00000512435.1:n.635C>T
ENST00000696153.1:c.610C>T	ENSP00000512444.1:p.Arg204Trp
ENST00000256474.3:c.499C>T MANE Select	ENSP00000256474.3:p.Arg167Trp
ENST00000256474.2:c.499C>T	ENSP00000256474.2:p.Arg167Trp
ENST00000345392.2:c.376C>T	ENSP00000344757.2:p.Arg126Trp
ENST00000477538.1:n.635C>T
NM_000551.3:c.499C>T , LRG_322t1:c.499C>T	NP_000542.1:p.Arg167Trp
NM_198156.2:c.376C>T	NP_937799.1:p.Arg126Trp
NM_001354723.1:c.*53C>T	NP_001341652.1:n.*53C>T
NM_000551.4:c.499C>T MANE Select	NP_000542.1:p.Arg167Trp
NM_001354723.2:c.*53C>T	NP_001341652.1:n.*53C>T
NM_198156.3:c.376C>T	NP_937799.1:p.Arg126Trp