Canonical Allele Identifier: CA357016
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223227
ClinVar RCV Id: RCV000208792 RCV000226031 RCV000567560 RCV000679043
dbSNP Id: rs5030622
COSMIC: COSM18023
MyVariant Identifiers: chr3:g.10191493C>G (hg19) chr3:g.10149809C>G (hg38)
CIViC: CA357016
PubMed: PMID:7728151 PMID:8707293 PMID:9829911 PMID:9829912 PMID:10408776 PMID:10567493 PMID:11331612 PMID:12202531 PMID:15177666 PMID:17350623 PMID:19270817 PMID:22649785 PMID:27527340
PCER: P-CER:CA357016/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149809C>G , CM000665.2:g.10149809C>G GRCh38
NC_000003.11:g.10191493C>G , CM000665.1:g.10191493C>G GRCh37
NC_000003.10:g.10166493C>G NCBI36
NG_008212.3:g.13175C>G , LRG_322:g.13175C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*163C>G ENSP00000512434.1:n.*163C>G
ENST00000696143.1:c.622C>G ENSP00000512435.1:n.622C>G
ENST00000696153.1:c.597C>G ENSP00000512444.1:p.Cys199Trp
ENST00000256474.3:c.486C>G MANE Select ENSP00000256474.3:p.Cys162Trp
ENST00000256474.2:c.486C>G ENSP00000256474.2:p.Cys162Trp
ENST00000345392.2:c.363C>G ENSP00000344757.2:p.Cys121Trp
ENST00000477538.1:n.622C>G
NM_000551.3:c.486C>G , LRG_322t1:c.486C>G NP_000542.1:p.Cys162Trp
NM_198156.2:c.363C>G NP_937799.1:p.Cys121Trp
NM_001354723.1:c.*40C>G NP_001341652.1:n.*40C>G
NM_000551.4:c.486C>G MANE Select NP_000542.1:p.Cys162Trp
NM_001354723.2:c.*40C>G NP_001341652.1:n.*40C>G
NM_198156.3:c.363C>G NP_937799.1:p.Cys121Trp
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