Canonical Allele Identifier: CA1345064232
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1575920294
gnomAD v4: 3-10141635-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141635C>G , CM000665.2:g.10141635C>G GRCh38
NC_000003.11:g.10183319C>G , CM000665.1:g.10183319C>G GRCh37
NC_000003.10:g.10158319C>G NCBI36
NG_008212.3:g.5001C>G , LRG_322:g.5001C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-213C>G ENSP00000256474.2:n.-213C>G
NM_000551.3:c.-213C>G , LRG_322t1:c.-213C>G NP_000542.1:n.-213C>G
NM_198156.2:c.-213C>G NP_937799.1:n.-213C>G
NM_001354723.1:c.-213C>G NP_001341652.1:n.-213C>G
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