Canonical Allele Identifier: CA357112
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223226
ClinVar RCV Id: RCV000208851
dbSNP Id: rs5030622
COSMIC: COSM18258
MyVariant Identifiers: chr3:g.10191493C>A (hg19) chr3:g.10149809C>A (hg38)
CIViC: CA357112
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*163C>A ENSP00000512434.1:n.*163C>A
ENST00000696143.1:c.622C>A ENSP00000512435.1:n.622C>A
ENST00000696153.1:c.597C>A ENSP00000512444.1:p.Cys199Ter
ENST00000256474.3:c.486C>A MANE Select ENSP00000256474.3:p.Cys162Ter
ENST00000256474.2:c.486C>A ENSP00000256474.2:p.Cys162Ter
ENST00000345392.2:c.363C>A ENSP00000344757.2:p.Cys121Ter
ENST00000477538.1:n.622C>A
NM_000551.3:c.486C>A , LRG_322t1:c.486C>A NP_000542.1:p.Cys162Ter
NM_198156.2:c.363C>A NP_937799.1:p.Cys121Ter
NM_001354723.1:c.*40C>A NP_001341652.1:n.*40C>A
NM_000551.4:c.486C>A MANE Select NP_000542.1:p.Cys162Ter
NM_001354723.2:c.*40C>A NP_001341652.1:n.*40C>A
NM_198156.3:c.363C>A NP_937799.1:p.Cys121Ter
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