Canonical Allele Identifier: CA2664399702
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141656-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141656C>T , CM000665.2:g.10141656C>T GRCh38
NC_000003.11:g.10183340C>T , CM000665.1:g.10183340C>T GRCh37
NC_000003.10:g.10158340C>T NCBI36
NG_008212.3:g.5022C>T , LRG_322:g.5022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-192C>T ENSP00000256474.2:n.-192C>T
NM_000551.3:c.-192C>T , LRG_322t1:c.-192C>T NP_000542.1:n.-192C>T
NM_198156.2:c.-192C>T NP_937799.1:n.-192C>T
NM_001354723.1:c.-192C>T NP_001341652.1:n.-192C>T
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