Canonical Allele Identifier: CA1345064436
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696107239
gnomAD v4: 3-10141752-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141752A>G , CM000665.2:g.10141752A>G GRCh38
NC_000003.11:g.10183436A>G , CM000665.1:g.10183436A>G GRCh37
NC_000003.10:g.10158436A>G NCBI36
NG_008212.3:g.5118A>G , LRG_322:g.5118A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-96A>G ENSP00000256474.2:n.-96A>G
NM_000551.3:c.-96A>G , LRG_322t1:c.-96A>G NP_000542.1:n.-96A>G
NM_198156.2:c.-96A>G NP_937799.1:n.-96A>G
NM_001354723.1:c.-96A>G NP_001341652.1:n.-96A>G
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