Canonical Allele Identifier: CA2740389532
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152357A>G , CM000665.2:g.10152357A>G GRCh38
NC_000003.11:g.10194041A>G , CM000665.1:g.10194041A>G GRCh37
NC_000003.10:g.10169041A>G NCBI36
NG_008212.3:g.15723A>G , LRG_322:g.15723A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2392A>G ENSP00000512444.1:n.*2392A>G
ENST00000256474.3:c.*2392A>G MANE Select ENSP00000256474.3:n.*2392A>G
NM_000551.3:c.*2392A>G , LRG_322t1:c.*2392A>G NP_000542.1:n.*2392A>G
NM_198156.2:c.*2392A>G NP_937799.1:n.*2392A>G
NM_001354723.1:c.*2588A>G NP_001341652.1:n.*2588A>G
NM_000551.4:c.*2392A>G MANE Select NP_000542.1:n.*2392A>G
NM_001354723.2:c.*2588A>G NP_001341652.1:n.*2588A>G
NM_198156.3:c.*2392A>G NP_937799.1:n.*2392A>G
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