Canonical Allele Identifier: CA1044994368
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10141528-A-C
gnomAD v4: 3-10141528-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141528A>C , CM000665.2:g.10141528A>C GRCh38
NC_000003.11:g.10183212A>C , CM000665.1:g.10183212A>C GRCh37
NC_000003.10:g.10158212A>C NCBI36
NG_008212.3:g.4894A>C , LRG_322:g.4894A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-320A>C ENSP00000256474.2:n.-320A>C