Canonical Allele Identifier: CA1044994372
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10141539-C-A
gnomAD v4: 3-10141539-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141539C>A , CM000665.2:g.10141539C>A GRCh38
NC_000003.11:g.10183223C>A , CM000665.1:g.10183223C>A GRCh37
NC_000003.10:g.10158223C>A NCBI36
NG_008212.3:g.4905C>A , LRG_322:g.4905C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-309C>A ENSP00000256474.2:n.-309C>A