Canonical Allele Identifier: CA351756706
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 440404
ClinVar RCV Id: RCV000508553 RCV000575054 RCV000556062 RCV002490859 RCV003464094 RCV004003561
dbSNP Id: rs1553620389
gnomAD v3: 3-10149957-G-T
gnomAD v4: 3-10149957-G-T
COSMIC: COSM3944612
MyVariant Identifiers: chr3:g.10191641G>T (hg19) chr3:g.10149957G>T (hg38)
ERepo: CA351756706/MONDO:0008667/078
PubMed: PMID:20560986
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149957G>T , CM000665.2:g.10149957G>T GRCh38
NC_000003.11:g.10191641G>T , CM000665.1:g.10191641G>T GRCh37
NC_000003.10:g.10166641G>T NCBI36
NG_008212.3:g.13323G>T , LRG_322:g.13323G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*311G>T ENSP00000512434.1:n.*311G>T
ENST00000696143.1:c.770G>T ENSP00000512435.1:n.770G>T
ENST00000696153.1:c.745G>T ENSP00000512444.1:p.Gly249Ter
ENST00000256474.3:c.634G>T MANE Select ENSP00000256474.3:p.Gly212Ter
ENST00000256474.2:c.634G>T ENSP00000256474.2:p.Gly212Ter
ENST00000345392.2:c.511G>T ENSP00000344757.2:p.Gly171Ter
ENST00000477538.1:n.770G>T
NM_000551.3:c.634G>T , LRG_322t1:c.634G>T NP_000542.1:p.Gly212Ter
NM_198156.2:c.511G>T NP_937799.1:p.Gly171Ter
NM_001354723.1:c.*188G>T NP_001341652.1:n.*188G>T
NM_000551.4:c.634G>T MANE Select NP_000542.1:p.Gly212Ter
NM_001354723.2:c.*188G>T NP_001341652.1:n.*188G>T
NM_198156.3:c.511G>T NP_937799.1:p.Gly171Ter
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