Canonical Allele Identifier: CA540875323
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1456524105
gnomAD v2: 3-10183233-C-A
gnomAD v4: 3-10141549-C-A
MyVariant Identifiers: chr3:g.10183233C>A (hg19) chr3:g.10141549C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141549C>A , CM000665.2:g.10141549C>A GRCh38
NC_000003.11:g.10183233C>A , CM000665.1:g.10183233C>A GRCh37
NC_000003.10:g.10158233C>A NCBI36
NG_008212.3:g.4915C>A , LRG_322:g.4915C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-299C>A ENSP00000256474.2:n.-299C>A
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