Canonical Allele Identifier: CA020408

Gene: VHL

Linked Data

• ClinVar Variation Id: 2217
• ClinVar RCV Id: RCV000002301 ; RCV000161091 ; RCV000437445 ; RCV000492225 ; RCV000791367 ; RCV001280922
• dbSNP Id: rs5030818
• COSMIC: COSM17612
• MyVariant Identifiers: chr3:g.10191488C>T (hg19) ; chr3:g.10149804C>T (hg38)
• CIViC: CA020408
• PubMed: PMID:7784063 ; PMID:7987327 ; PMID:8522307 ; PMID:8730290 ; PMID:8956040 ; PMID:9452032 ; PMID:12114495 ; PMID:14722919 ; PMID:15300849 ; PMID:19270817 ; PMID:21362373 ; PMID:24301059 ; PMID:25157968 ; PMID:25720320 ; PMID:27527340 ; PMID:27617348
• PCER: P-CER:CA020408/193300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149804C>T , CM000665.2:g.10149804C>T	GRCh38
NC_000003.11:g.10191488C>T , CM000665.1:g.10191488C>T	GRCh37
NC_000003.10:g.10166488C>T	NCBI36
NG_008212.3:g.13170C>T , LRG_322:g.13170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*158C>T	ENSP00000512434.1:n.*158C>T
ENST00000696143.1:c.617C>T	ENSP00000512435.1:n.617C>T
ENST00000696153.1:c.592C>T	ENSP00000512444.1:p.Arg198Ter
ENST00000256474.3:c.481C>T MANE Select	ENSP00000256474.3:p.Arg161Ter
ENST00000256474.2:c.481C>T	ENSP00000256474.2:p.Arg161Ter
ENST00000345392.2:c.358C>T	ENSP00000344757.2:p.Arg120Ter
ENST00000477538.1:n.617C>T
NM_000551.3:c.481C>T , LRG_322t1:c.481C>T	NP_000542.1:p.Arg161Ter
NM_198156.2:c.358C>T	NP_937799.1:p.Arg120Ter
NM_001354723.1:c.*35C>T	NP_001341652.1:n.*35C>T
NM_000551.4:c.481C>T MANE Select	NP_000542.1:p.Arg161Ter
NM_001354723.2:c.*35C>T	NP_001341652.1:n.*35C>T
NM_198156.3:c.358C>T	NP_937799.1:p.Arg120Ter