Canonical Allele Identifier: CA70041667
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1292417
ClinVar RCV Id: RCV001717080
dbSNP Id: rs36068404
gnomAD v2: 3-10183241-C-CAA
gnomAD v3: 3-10141557-C-CAA
gnomAD v4: 3-10141557-C-CAA
MyVariant Identifiers: chr3:g.10183241_10183242insAA (hg19) chr3:g.10141557_10141558insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141570_10141571dup , CM000665.2:g.10141570_10141571dup GRCh38
NC_000003.11:g.10183254_10183255dup , CM000665.1:g.10183254_10183255dup GRCh37
NC_000003.10:g.10158254_10158255dup NCBI36
NG_008212.3:g.4936_4937dup , LRG_322:g.4936_4937dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-278_-277dup ENSP00000256474.2:n.-278_-277dup
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