Canonical Allele Identifier: CA1345065510
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152798T= , CM000665.2:g.10152798T= GRCh38
NC_000003.11:g.10194482T= , CM000665.1:g.10194482T= GRCh37
NC_000003.10:g.10169482T= NCBI36
NG_008212.3:g.16164T= , LRG_322:g.16164T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2833T= ENSP00000512444.1:n.*2833T=
ENST00000256474.3:c.*2833T= MANE Select ENSP00000256474.3:n.*2833T=
NM_000551.3:c.*2833T= , LRG_322t1:c.*2833T= NP_000542.1:n.*2833T=
NM_198156.2:c.*2833T= NP_937799.1:n.*2833T=
NM_001354723.1:c.*3029T= NP_001341652.1:n.*3029T=
NM_000551.4:c.*2833T= MANE Select NP_000542.1:n.*2833T=
NM_001354723.2:c.*3029T= NP_001341652.1:n.*3029T=
NM_198156.3:c.*2833T= NP_937799.1:n.*2833T=
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