Canonical Allele Identifier: CA1044994381
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1162923434
gnomAD v3: 3-10141550-C-T
gnomAD v4: 3-10141550-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141550C>T , CM000665.2:g.10141550C>T GRCh38
NC_000003.11:g.10183234C>T , CM000665.1:g.10183234C>T GRCh37
NC_000003.10:g.10158234C>T NCBI36
NG_008212.3:g.4916C>T , LRG_322:g.4916C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-298C>T ENSP00000256474.2:n.-298C>T