Canonical Allele Identifier: CA020469
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 161401
ClinVar RCV Id: RCV000148921 RCV000480432 RCV000524495 RCV000569566 RCV002467588 RCV003387773
dbSNP Id: rs377715747
ExAC: 3:10191545 A / G
gnomAD v2: 3-10191545-A-G
gnomAD v3: 3-10149861-A-G
gnomAD v4: 3-10149861-A-G
MyVariant Identifiers: chr3:g.10191545A>G (hg19) chr3:g.10149861A>G (hg38)
PCER: P-CER:CA020469/193300
PubMed: PMID:7987306 PMID:8956040 PMID:9681856 PMID:17024664 PMID:19408298 PMID:20151405 PMID:21715564 PMID:23606570 PMID:24969085 PMID:25637381 PMID:28166483
CIViC: CA020469
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149861A>G , CM000665.2:g.10149861A>G GRCh38
NC_000003.11:g.10191545A>G , CM000665.1:g.10191545A>G GRCh37
NC_000003.10:g.10166545A>G NCBI36
NG_008212.3:g.13227A>G , LRG_322:g.13227A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*215A>G ENSP00000512434.1:n.*215A>G
ENST00000696143.1:c.674A>G ENSP00000512435.1:n.674A>G
ENST00000696153.1:c.649A>G ENSP00000512444.1:p.Ile217Val
ENST00000256474.3:c.538A>G MANE Select ENSP00000256474.3:p.Ile180Val
ENST00000256474.2:c.538A>G ENSP00000256474.2:p.Ile180Val
ENST00000345392.2:c.415A>G ENSP00000344757.2:p.Ile139Val
ENST00000477538.1:n.674A>G
NM_000551.3:c.538A>G , LRG_322t1:c.538A>G NP_000542.1:p.Ile180Val
NM_198156.2:c.415A>G NP_937799.1:p.Ile139Val
NM_001354723.1:c.*92A>G NP_001341652.1:n.*92A>G
NM_000551.4:c.538A>G MANE Select NP_000542.1:p.Ile180Val
NM_001354723.2:c.*92A>G NP_001341652.1:n.*92A>G
NM_198156.3:c.415A>G NP_937799.1:p.Ile139Val
Search 100 bp 5'
Search 100 bp 3'