Canonical Allele Identifier: CA2573052050
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1337521
ClinVar RCV Id: RCV001820535
dbSNP Id: rs1212094215
gnomAD v4: 3-10141726-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141726T>C , CM000665.2:g.10141726T>C GRCh38
NC_000003.11:g.10183410T>C , CM000665.1:g.10183410T>C GRCh37
NC_000003.10:g.10158410T>C NCBI36
NG_008212.3:g.5092T>C , LRG_322:g.5092T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-122T>C ENSP00000256474.2:n.-122T>C
NM_000551.3:c.-122T>C , LRG_322t1:c.-122T>C NP_000542.1:n.-122T>C
NM_198156.2:c.-122T>C NP_937799.1:n.-122T>C
NM_001354723.1:c.-122T>C NP_001341652.1:n.-122T>C
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