Canonical Allele Identifier: CA2664399827
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141750-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141750C>A , CM000665.2:g.10141750C>A GRCh38
NC_000003.11:g.10183434C>A , CM000665.1:g.10183434C>A GRCh37
NC_000003.10:g.10158434C>A NCBI36
NG_008212.3:g.5116C>A , LRG_322:g.5116C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-98C>A ENSP00000256474.2:n.-98C>A
NM_000551.3:c.-98C>A , LRG_322t1:c.-98C>A NP_000542.1:n.-98C>A
NM_198156.2:c.-98C>A NP_937799.1:n.-98C>A
NM_001354723.1:c.-98C>A NP_001341652.1:n.-98C>A
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