Canonical Allele Identifier: CA70041754
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs570932862
gnomAD v2: 3-10183311-T-C
gnomAD v3: 3-10141627-T-C
gnomAD v4: 3-10141627-T-C
MyVariant Identifiers: chr3:g.10183311T>C (hg19) chr3:g.10141627T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141627T>C , CM000665.2:g.10141627T>C GRCh38
NC_000003.11:g.10183311T>C , CM000665.1:g.10183311T>C GRCh37
NC_000003.10:g.10158311T>C NCBI36
NG_008212.3:g.4993T>C , LRG_322:g.4993T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-221T>C ENSP00000256474.2:n.-221T>C
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Search 100 bp 3'