Canonical Allele Identifier: CA1345064242
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10151050T= , CM000665.2:g.10151050T= GRCh38
NC_000003.11:g.10192734T= , CM000665.1:g.10192734T= GRCh37
NC_000003.10:g.10167734T= NCBI36
NG_008212.3:g.14416T= , LRG_322:g.14416T=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*1404T= ENSP00000512434.1:n.*1404T=
ENST00000696143.1:c.1863T= ENSP00000512435.1:n.1863T=
ENST00000696153.1:c.*1085T= ENSP00000512444.1:n.*1085T=
ENST00000256474.3:c.*1085T= MANE Select ENSP00000256474.3:n.*1085T=
ENST00000256474.2:c.*1085T= ENSP00000256474.2:n.*1085T=
ENST00000345392.2:c.*1085T= ENSP00000344757.2:n.*1085T=
NM_000551.3:c.*1085T= , LRG_322t1:c.*1085T= NP_000542.1:n.*1085T=
NM_198156.2:c.*1085T= NP_937799.1:n.*1085T=
NM_001354723.1:c.*1281T= NP_001341652.1:n.*1281T=
NM_000551.4:c.*1085T= MANE Select NP_000542.1:n.*1085T=
NM_001354723.2:c.*1281T= NP_001341652.1:n.*1281T=
NM_198156.3:c.*1085T= NP_937799.1:n.*1085T=