Canonical Allele Identifier: CA70041661
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs369381126
gnomAD v4: 3-10141527-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141527C>T , CM000665.2:g.10141527C>T GRCh38
NC_000003.11:g.10183211C>T , CM000665.1:g.10183211C>T GRCh37
NC_000003.10:g.10158211C>T NCBI36
NG_008212.3:g.4893C>T , LRG_322:g.4893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-321C>T ENSP00000256474.2:n.-321C>T