Canonical Allele Identifier: CA1345063439
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150248T= , CM000665.2:g.10150248T= GRCh38
NC_000003.11:g.10191932T= , CM000665.1:g.10191932T= GRCh37
NC_000003.10:g.10166932T= NCBI36
NG_008212.3:g.13614T= , LRG_322:g.13614T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*602T= ENSP00000512434.1:n.*602T=
ENST00000696143.1:c.1061T= ENSP00000512435.1:n.1061T=
ENST00000696153.1:c.*283T= ENSP00000512444.1:n.*283T=
ENST00000256474.3:c.*283T= MANE Select ENSP00000256474.3:n.*283T=
ENST00000256474.2:c.*283T= ENSP00000256474.2:n.*283T=
ENST00000345392.2:c.*283T= ENSP00000344757.2:n.*283T=
NM_000551.3:c.*283T= , LRG_322t1:c.*283T= NP_000542.1:n.*283T=
NM_198156.2:c.*283T= NP_937799.1:n.*283T=
NM_001354723.1:c.*479T= NP_001341652.1:n.*479T=
NM_000551.4:c.*283T= MANE Select NP_000542.1:n.*283T=
NM_001354723.2:c.*479T= NP_001341652.1:n.*479T=
NM_198156.3:c.*283T= NP_937799.1:n.*283T=