Canonical Allele Identifier: CA020379
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 127830
dbSNP Id: rs5030834
gnomAD v2: 3-10188328-C-T
gnomAD v3: 3-10146644-C-T
gnomAD v4: 3-10146644-C-T
COSMIC: COSM17775
CIViC: CA020379

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146644C>T , CM000665.2:g.10146644C>T GRCh38
NC_000003.11:g.10188328C>T , CM000665.1:g.10188328C>T GRCh37
NC_000003.10:g.10163328C>T NCBI36
NG_008212.3:g.10010C>T , LRG_322:g.10010C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*140+8C>T ENSP00000512434.1:n.*140+8C>T
ENST00000696143.1:c.600-3143C>T ENSP00000512435.1:n.600-3143C>T
ENST00000696153.1:c.463+8C>T ENSP00000512444.1:n.463+8C>T
ENST00000256474.3:c.463+8C>T MANE Select ENSP00000256474.3:n.463+8C>T
ENST00000256474.2:c.463+8C>T ENSP00000256474.2:n.463+8C>T
ENST00000345392.2:c.341-3143C>T ENSP00000344757.2:n.341-3143C>T
ENST00000477538.1:n.599+8C>T
NM_000551.3:c.463+8C>T , LRG_322t1:c.463+8C>T NP_000542.1:n.463+8C>T
NM_198156.2:c.341-3143C>T NP_937799.1:n.341-3143C>T
NM_001354723.1:c.*18-3143C>T NP_001341652.1:n.*18-3143C>T
NM_000551.4:c.463+8C>T MANE Select NP_000542.1:n.463+8C>T
NM_001354723.2:c.*18-3143C>T NP_001341652.1:n.*18-3143C>T
NM_198156.3:c.341-3143C>T NP_937799.1:n.341-3143C>T