Canonical Allele Identifier: CA70041766
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs933374199
gnomAD v3: 3-10141632-T-C
gnomAD v4: 3-10141632-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141632T>C , CM000665.2:g.10141632T>C GRCh38
NC_000003.11:g.10183316T>C , CM000665.1:g.10183316T>C GRCh37
NC_000003.10:g.10158316T>C NCBI36
NG_008212.3:g.4998T>C , LRG_322:g.4998T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-216T>C ENSP00000256474.2:n.-216T>C