Canonical Allele Identifier: CA357145
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223235
ClinVar RCV Id: RCV000208871 RCV001024703
dbSNP Id: rs869025667
COSMIC: COSM17666
MyVariant Identifiers: chr3:g.10191600T>C (hg19) chr3:g.10149916T>C (hg38)
CIViC: CA357145
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149916T>C , CM000665.2:g.10149916T>C GRCh38
NC_000003.11:g.10191600T>C , CM000665.1:g.10191600T>C GRCh37
NC_000003.10:g.10166600T>C NCBI36
NG_008212.3:g.13282T>C , LRG_322:g.13282T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*270T>C ENSP00000512434.1:n.*270T>C
ENST00000696143.1:c.729T>C ENSP00000512435.1:n.729T>C
ENST00000696153.1:c.704T>C ENSP00000512444.1:p.Leu235Pro
ENST00000256474.3:c.593T>C MANE Select ENSP00000256474.3:p.Leu198Pro
ENST00000256474.2:c.593T>C ENSP00000256474.2:p.Leu198Pro
ENST00000345392.2:c.470T>C ENSP00000344757.2:p.Leu157Pro
ENST00000477538.1:n.729T>C
NM_000551.3:c.593T>C , LRG_322t1:c.593T>C NP_000542.1:p.Leu198Pro
NM_198156.2:c.470T>C NP_937799.1:p.Leu157Pro
NM_001354723.1:c.*147T>C NP_001341652.1:n.*147T>C
NM_000551.4:c.593T>C MANE Select NP_000542.1:p.Leu198Pro
NM_001354723.2:c.*147T>C NP_001341652.1:n.*147T>C
NM_198156.3:c.470T>C NP_937799.1:p.Leu157Pro
Search 100 bp 5'
Search 100 bp 3'