Canonical Allele Identifier: CA1044994380
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10141547-G-A
gnomAD v4: 3-10141547-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141547G>A , CM000665.2:g.10141547G>A GRCh38
NC_000003.11:g.10183231G>A , CM000665.1:g.10183231G>A GRCh37
NC_000003.10:g.10158231G>A NCBI36
NG_008212.3:g.4913G>A , LRG_322:g.4913G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-301G>A ENSP00000256474.2:n.-301G>A