Canonical Allele Identifier: CA645369326
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 428801
ClinVar RCV Id: RCV000492761
dbSNP Id: rs1131690958
MyVariant Identifiers: chr3:g.10191550dup (hg19) chr3:g.10149866dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149866dup , CM000665.2:g.10149866dup GRCh38
NC_000003.11:g.10191550dup , CM000665.1:g.10191550dup GRCh37
NC_000003.10:g.10166550dup NCBI36
NG_008212.3:g.13232dup , LRG_322:g.13232dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*220dup ENSP00000512434.1:n.*220dup
ENST00000696143.1:c.679dup ENSP00000512435.1:n.679dup
ENST00000696153.1:c.654dup ENSP00000512444.1:p.Arg219GlnfsTer?
ENST00000256474.3:c.543dup MANE Select ENSP00000256474.3:p.Arg182GlnfsTer?
ENST00000256474.2:c.543dup ENSP00000256474.2:p.Arg182GlnfsTer?
ENST00000345392.2:c.420dup ENSP00000344757.2:p.Arg141GlnfsTer?
ENST00000477538.1:n.679dup
NM_000551.3:c.543dup , LRG_322t1:c.543dup NP_000542.1:p.Arg182GlnfsTer?
NM_198156.2:c.420dup NP_937799.1:p.Arg141GlnfsTer?
NM_001354723.1:c.*97dup NP_001341652.1:n.*97dup
NM_000551.4:c.543dup MANE Select NP_000542.1:p.Arg182GlnfsTer?
NM_001354723.2:c.*97dup NP_001341652.1:n.*97dup
NM_198156.3:c.420dup NP_937799.1:p.Arg141GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'