Canonical Allele Identifier: CA70041717
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1030435290
gnomAD v3: 3-10141600-T-A
gnomAD v4: 3-10141600-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141600T>A , CM000665.2:g.10141600T>A GRCh38
NC_000003.11:g.10183284T>A , CM000665.1:g.10183284T>A GRCh37
NC_000003.10:g.10158284T>A NCBI36
NG_008212.3:g.4966T>A , LRG_322:g.4966T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-248T>A ENSP00000256474.2:n.-248T>A