Canonical Allele Identifier: CA1345065733
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs566770993
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153109C>G , CM000665.2:g.10153109C>G GRCh38
NC_000003.11:g.10194793C>G , CM000665.1:g.10194793C>G GRCh37
NC_000003.10:g.10169793C>G NCBI36
NG_008212.3:g.16475C>G , LRG_322:g.16475C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*3144C>G ENSP00000512444.1:n.*3144C>G
ENST00000256474.3:c.*3144C>G MANE Select ENSP00000256474.3:n.*3144C>G
NM_000551.3:c.*3144C>G , LRG_322t1:c.*3144C>G NP_000542.1:n.*3144C>G
NM_198156.2:c.*3144C>G NP_937799.1:n.*3144C>G
NM_001354723.1:c.*3340C>G NP_001341652.1:n.*3340C>G
NM_000551.4:c.*3144C>G MANE Select NP_000542.1:n.*3144C>G
NM_001354723.2:c.*3340C>G NP_001341652.1:n.*3340C>G
NM_198156.3:c.*3144C>G NP_937799.1:n.*3144C>G
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