Canonical Allele Identifier: CA2839882169
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141768G>A , CM000665.2:g.10141768G>A GRCh38
NC_000003.11:g.10183452G>A , CM000665.1:g.10183452G>A GRCh37
NC_000003.10:g.10158452G>A NCBI36
NG_008212.3:g.5134G>A , LRG_322:g.5134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-80G>A ENSP00000256474.2:n.-80G>A
NM_000551.3:c.-80G>A , LRG_322t1:c.-80G>A NP_000542.1:n.-80G>A
NM_198156.2:c.-80G>A NP_937799.1:n.-80G>A
XM_011534078.1:c.-80G>A XP_011532380.1:n.-80G>A
NM_001354723.1:c.-80G>A NP_001341652.1:n.-80G>A
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