Canonical Allele Identifier: CA020331
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 135406
ClinVar RCV Id: RCV000122260 RCV000409700 RCV000467198 RCV000492595 RCV000657025
dbSNP Id: rs578091032
ExAC: 3:10183534 G / A
gnomAD v2: 3-10183534-G-A
gnomAD v3: 3-10141850-G-A
gnomAD v4: 3-10141850-G-A
COSMIC: COSM14367
MyVariant Identifiers: chr3:g.10183534G>A (hg19) chr3:g.10141850G>A (hg38)
PubMed: PMID:9413424 PMID:9671762 PMID:9751722 PMID:11505222 PMID:23541568 PMID:24728327
CIViC: CA020331
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141850G>A , CM000665.2:g.10141850G>A GRCh38
NC_000003.11:g.10183534G>A , CM000665.1:g.10183534G>A GRCh37
NC_000003.10:g.10158534G>A NCBI36
NG_008212.3:g.5216G>A , LRG_322:g.5216G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.3G>A ENSP00000512434.1:p.Met1Ile
ENST00000696143.1:c.3G>A ENSP00000512435.1:p.Met1Ile
ENST00000696153.1:c.3G>A ENSP00000512444.1:p.Met1Ile
ENST00000256474.3:c.3G>A MANE Select ENSP00000256474.3:p.Met1Ile
ENST00000256474.2:c.3G>A ENSP00000256474.2:p.Met1Ile
ENST00000345392.2:c.3G>A ENSP00000344757.2:p.Met1Ile
NM_000551.3:c.3G>A , LRG_322t1:c.3G>A NP_000542.1:p.Met1Ile
NM_198156.2:c.3G>A NP_937799.1:p.Met1Ile
XM_011534078.1:c.3G>A XP_011532380.1:p.Met1Ile
NM_001354723.1:c.3G>A NP_001341652.1:p.Met1Ile
NM_000551.4:c.3G>A MANE Select NP_000542.1:p.Met1Ile
NM_001354723.2:c.3G>A NP_001341652.1:p.Met1Ile
NM_198156.3:c.3G>A NP_937799.1:p.Met1Ile
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