Canonical Allele Identifier: CA1044994374
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10141541-G-A
gnomAD v4: 3-10141541-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141541G>A , CM000665.2:g.10141541G>A GRCh38
NC_000003.11:g.10183225G>A , CM000665.1:g.10183225G>A GRCh37
NC_000003.10:g.10158225G>A NCBI36
NG_008212.3:g.4907G>A , LRG_322:g.4907G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-307G>A ENSP00000256474.2:n.-307G>A