Canonical Allele Identifier: CA1139655716
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 902166
ClinVar RCV Id: RCV001148528
dbSNP Id: rs1696106670
gnomAD v4: 3-10141730-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141730C>T , CM000665.2:g.10141730C>T GRCh38
NC_000003.11:g.10183414C>T , CM000665.1:g.10183414C>T GRCh37
NC_000003.10:g.10158414C>T NCBI36
NG_008212.3:g.5096C>T , LRG_322:g.5096C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-118C>T ENSP00000256474.2:n.-118C>T
NM_000551.3:c.-118C>T , LRG_322t1:c.-118C>T NP_000542.1:n.-118C>T
NM_198156.2:c.-118C>T NP_937799.1:n.-118C>T
NM_001354723.1:c.-118C>T NP_001341652.1:n.-118C>T
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