Canonical Allele Identifier: CA020454
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2216
ClinVar RCV Id: RCV000002300 RCV000213850 RCV000325074 RCV000506694 RCV000627745 RCV003448242
dbSNP Id: rs5030821
gnomAD v2: 3-10191507-G-A
COSMIC: COSM17983
MyVariant Identifiers: chr3:g.10191507G>A (hg19) chr3:g.10149823G>A (hg38)
PCER: P-CER:CA020454/193300
PubMed: PMID:7784063 PMID:7987306 PMID:8270255 PMID:8956040 PMID:10567493 PMID:12000816 PMID:12114495 PMID:15574766 PMID:17024664 PMID:20518900 PMID:24581539 PMID:25371412 PMID:25562111 PMID:27439424 PMID:28469506
CIViC: CA020454
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149823G>A , CM000665.2:g.10149823G>A GRCh38
NC_000003.11:g.10191507G>A , CM000665.1:g.10191507G>A GRCh37
NC_000003.10:g.10166507G>A NCBI36
NG_008212.3:g.13189G>A , LRG_322:g.13189G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*177G>A ENSP00000512434.1:n.*177G>A
ENST00000696143.1:c.636G>A ENSP00000512435.1:n.636G>A
ENST00000696153.1:c.611G>A ENSP00000512444.1:p.Arg204Gln
ENST00000256474.3:c.500G>A MANE Select ENSP00000256474.3:p.Arg167Gln
ENST00000256474.2:c.500G>A ENSP00000256474.2:p.Arg167Gln
ENST00000345392.2:c.377G>A ENSP00000344757.2:p.Arg126Gln
ENST00000477538.1:n.636G>A
NM_000551.3:c.500G>A , LRG_322t1:c.500G>A NP_000542.1:p.Arg167Gln
NM_198156.2:c.377G>A NP_937799.1:p.Arg126Gln
NM_001354723.1:c.*54G>A NP_001341652.1:n.*54G>A
NM_000551.4:c.500G>A MANE Select NP_000542.1:p.Arg167Gln
NM_001354723.2:c.*54G>A NP_001341652.1:n.*54G>A
NM_198156.3:c.377G>A NP_937799.1:p.Arg126Gln
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