Canonical Allele Identifier: CA279950
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 219159
ClinVar RCV Id: RCV000203560
dbSNP Id: rs864321642
COSMIC: COSM253382
CIViC: CA279950

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149832T>C , CM000665.2:g.10149832T>C GRCh38
NC_000003.11:g.10191516T>C , CM000665.1:g.10191516T>C GRCh37
NC_000003.10:g.10166516T>C NCBI36
NG_008212.3:g.13198T>C , LRG_322:g.13198T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*186T>C ENSP00000512434.1:n.*186T>C
ENST00000696143.1:c.645T>C ENSP00000512435.1:n.645T>C
ENST00000696153.1:c.620T>C ENSP00000512444.1:p.Val207Ala
ENST00000256474.3:c.509T>C MANE Select ENSP00000256474.3:p.Val170Ala
ENST00000256474.2:c.509T>C ENSP00000256474.2:p.Val170Ala
ENST00000345392.2:c.386T>C ENSP00000344757.2:p.Val129Ala
ENST00000477538.1:n.645T>C
NM_000551.3:c.509T>C , LRG_322t1:c.509T>C NP_000542.1:p.Val170Ala
NM_198156.2:c.386T>C NP_937799.1:p.Val129Ala
NM_001354723.1:c.*63T>C NP_001341652.1:n.*63T>C
NM_000551.4:c.509T>C MANE Select NP_000542.1:p.Val170Ala
NM_001354723.2:c.*63T>C NP_001341652.1:n.*63T>C
NM_198156.3:c.386T>C NP_937799.1:p.Val129Ala