Canonical Allele Identifier: CA020488
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2225
ClinVar RCV Id: RCV000002311 RCV000002312 RCV000002313 RCV000210199 RCV000480890 RCV000627743 RCV003330076
dbSNP Id: rs5030824
ExAC: 3:10191569 C / G
gnomAD v2: 3-10191569-C-G
gnomAD v3: 3-10149885-C-G
gnomAD v4: 3-10149885-C-G
COSMIC: COSM18026
MyVariant Identifiers: chr3:g.10191569C>G (hg19) chr3:g.10149885C>G (hg38)
CIViC: CA020488
PubMed: PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:11331612 PMID:12000816 PMID:12393546 PMID:12414898 PMID:12844285 PMID:15642680 PMID:16452184 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:23772956 PMID:26845104
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149885C>G , CM000665.2:g.10149885C>G GRCh38
NC_000003.11:g.10191569C>G , CM000665.1:g.10191569C>G GRCh37
NC_000003.10:g.10166569C>G NCBI36
NG_008212.3:g.13251C>G , LRG_322:g.13251C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*239C>G ENSP00000512434.1:n.*239C>G
ENST00000696143.1:c.698C>G ENSP00000512435.1:n.698C>G
ENST00000696153.1:c.673C>G ENSP00000512444.1:p.Leu225Val
ENST00000256474.3:c.562C>G MANE Select ENSP00000256474.3:p.Leu188Val
ENST00000256474.2:c.562C>G ENSP00000256474.2:p.Leu188Val
ENST00000345392.2:c.439C>G ENSP00000344757.2:p.Leu147Val
ENST00000477538.1:n.698C>G
NM_000551.3:c.562C>G , LRG_322t1:c.562C>G NP_000542.1:p.Leu188Val
NM_198156.2:c.439C>G NP_937799.1:p.Leu147Val
NM_001354723.1:c.*116C>G NP_001341652.1:n.*116C>G
NM_000551.4:c.562C>G MANE Select NP_000542.1:p.Leu188Val
NM_001354723.2:c.*116C>G NP_001341652.1:n.*116C>G
NM_198156.3:c.439C>G NP_937799.1:p.Leu147Val
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