Canonical Allele Identifier: CA2755195486
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10151980G>A , CM000665.2:g.10151980G>A GRCh38
NC_000003.11:g.10193664G>A , CM000665.1:g.10193664G>A GRCh37
NC_000003.10:g.10168664G>A NCBI36
NG_008212.3:g.15346G>A , LRG_322:g.15346G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696143.1:c.2793G>A ENSP00000512435.1:n.2793G>A
ENST00000696153.1:c.*2015G>A ENSP00000512444.1:n.*2015G>A
ENST00000256474.3:c.*2015G>A MANE Select ENSP00000256474.3:n.*2015G>A
ENST00000256474.2:c.*2015G>A ENSP00000256474.2:n.*2015G>A
ENST00000345392.2:c.*2015G>A ENSP00000344757.2:n.*2015G>A
NM_000551.3:c.*2015G>A , LRG_322t1:c.*2015G>A NP_000542.1:n.*2015G>A
NM_198156.2:c.*2015G>A NP_937799.1:n.*2015G>A
NM_001354723.1:c.*2211G>A NP_001341652.1:n.*2211G>A
NM_000551.4:c.*2015G>A MANE Select NP_000542.1:n.*2015G>A
NM_001354723.2:c.*2211G>A NP_001341652.1:n.*2211G>A
NM_198156.3:c.*2015G>A NP_937799.1:n.*2015G>A
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