Canonical Allele Identifier: CA351756398
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 625265
ClinVar RCV Id: RCV000767293
dbSNP Id: rs1559429824
COSMIC: COSM17800
MyVariant Identifiers: chr3:g.10191570T>A (hg19) chr3:g.10149886T>A (hg38)
CIViC: CA351756398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149886T>A , CM000665.2:g.10149886T>A GRCh38
NC_000003.11:g.10191570T>A , CM000665.1:g.10191570T>A GRCh37
NC_000003.10:g.10166570T>A NCBI36
NG_008212.3:g.13252T>A , LRG_322:g.13252T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*240T>A ENSP00000512434.1:n.*240T>A
ENST00000696143.1:c.699T>A ENSP00000512435.1:n.699T>A
ENST00000696153.1:c.674T>A ENSP00000512444.1:p.Leu225Gln
ENST00000256474.3:c.563T>A MANE Select ENSP00000256474.3:p.Leu188Gln
ENST00000256474.2:c.563T>A ENSP00000256474.2:p.Leu188Gln
ENST00000345392.2:c.440T>A ENSP00000344757.2:p.Leu147Gln
ENST00000477538.1:n.699T>A
NM_000551.3:c.563T>A , LRG_322t1:c.563T>A NP_000542.1:p.Leu188Gln
NM_198156.2:c.440T>A NP_937799.1:p.Leu147Gln
NM_001354723.1:c.*117T>A NP_001341652.1:n.*117T>A
NM_000551.4:c.563T>A MANE Select NP_000542.1:p.Leu188Gln
NM_001354723.2:c.*117T>A NP_001341652.1:n.*117T>A
NM_198156.3:c.440T>A NP_937799.1:p.Leu147Gln
Search 100 bp 5'
Search 100 bp 3'