Canonical Allele Identifier: CA357010
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223225
ClinVar RCV Id: RCV003278699
dbSNP Id: rs397516444
COSMIC: COSM14408
MyVariant Identifiers: chr3:g.10191492G>A (hg19) chr3:g.10149808G>A (hg38)
CIViC: CA357010
PCER: P-CER:CA357010/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149808G>A , CM000665.2:g.10149808G>A GRCh38
NC_000003.11:g.10191492G>A , CM000665.1:g.10191492G>A GRCh37
NC_000003.10:g.10166492G>A NCBI36
NG_008212.3:g.13174G>A , LRG_322:g.13174G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*162G>A ENSP00000512434.1:n.*162G>A
ENST00000696143.1:c.621G>A ENSP00000512435.1:n.621G>A
ENST00000696153.1:c.596G>A ENSP00000512444.1:p.Cys199Tyr
ENST00000256474.3:c.485G>A MANE Select ENSP00000256474.3:p.Cys162Tyr
ENST00000256474.2:c.485G>A ENSP00000256474.2:p.Cys162Tyr
ENST00000345392.2:c.362G>A ENSP00000344757.2:p.Cys121Tyr
ENST00000477538.1:n.621G>A
NM_000551.3:c.485G>A , LRG_322t1:c.485G>A NP_000542.1:p.Cys162Tyr
NM_198156.2:c.362G>A NP_937799.1:p.Cys121Tyr
NM_001354723.1:c.*39G>A NP_001341652.1:n.*39G>A
NM_000551.4:c.485G>A MANE Select NP_000542.1:p.Cys162Tyr
NM_001354723.2:c.*39G>A NP_001341652.1:n.*39G>A
NM_198156.3:c.362G>A NP_937799.1:p.Cys121Tyr
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