Canonical Allele Identifier: CA540875319
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1165645274
gnomAD v2: 3-10183219-G-A
gnomAD v3: 3-10141535-G-A
gnomAD v4: 3-10141535-G-A
MyVariant Identifiers: chr3:g.10183219G>A (hg19) chr3:g.10141535G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141535G>A , CM000665.2:g.10141535G>A GRCh38
NC_000003.11:g.10183219G>A , CM000665.1:g.10183219G>A GRCh37
NC_000003.10:g.10158219G>A NCBI36
NG_008212.3:g.4901G>A , LRG_322:g.4901G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-313G>A ENSP00000256474.2:n.-313G>A
Search 100 bp 5'
Search 100 bp 3'