Canonical Allele Identifier: CA1345065466
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152727T= , CM000665.2:g.10152727T= GRCh38
NC_000003.11:g.10194411T= , CM000665.1:g.10194411T= GRCh37
NC_000003.10:g.10169411T= NCBI36
NG_008212.3:g.16093T= , LRG_322:g.16093T=

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2762T= ENSP00000512444.1:n.*2762T=
ENST00000256474.3:c.*2762T= MANE Select ENSP00000256474.3:n.*2762T=
NM_000551.3:c.*2762T= , LRG_322t1:c.*2762T= NP_000542.1:n.*2762T=
NM_198156.2:c.*2762T= NP_937799.1:n.*2762T=
NM_001354723.1:c.*2958T= NP_001341652.1:n.*2958T=
NM_000551.4:c.*2762T= MANE Select NP_000542.1:n.*2762T=
NM_001354723.2:c.*2958T= NP_001341652.1:n.*2958T=
NM_198156.3:c.*2762T= NP_937799.1:n.*2762T=