Canonical Allele Identifier: CA357063
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223169
ClinVar RCV Id: RCV000208821 RCV000803184
dbSNP Id: rs5030804
COSMIC: COSM14320
MyVariant Identifiers: chr3:g.10183764A>T (hg19) chr3:g.10142080A>T (hg38)
CIViC: CA357063
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142080A>T , CM000665.2:g.10142080A>T GRCh38
NC_000003.11:g.10183764A>T , CM000665.1:g.10183764A>T GRCh37
NC_000003.10:g.10158764A>T NCBI36
NG_008212.3:g.5446A>T , LRG_322:g.5446A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.233A>T ENSP00000512434.1:p.Asn78Ile
ENST00000696143.1:c.233A>T ENSP00000512435.1:p.Asn78Ile
ENST00000696153.1:c.233A>T ENSP00000512444.1:p.Asn78Ile
ENST00000256474.3:c.233A>T MANE Select ENSP00000256474.3:p.Asn78Ile
ENST00000256474.2:c.233A>T ENSP00000256474.2:p.Asn78Ile
ENST00000345392.2:c.233A>T ENSP00000344757.2:p.Asn78Ile
NM_000551.3:c.233A>T , LRG_322t1:c.233A>T NP_000542.1:p.Asn78Ile
NM_198156.2:c.233A>T NP_937799.1:p.Asn78Ile
XM_011534078.1:c.233A>T XP_011532380.1:p.Asn78Ile
NM_001354723.1:c.233A>T NP_001341652.1:p.Asn78Ile
NM_000551.4:c.233A>T MANE Select NP_000542.1:p.Asn78Ile
NM_001354723.2:c.233A>T NP_001341652.1:p.Asn78Ile
NM_198156.3:c.233A>T NP_937799.1:p.Asn78Ile
Search 100 bp 5'
Search 100 bp 3'