Canonical Allele Identifier: CA1345065905
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153358G= , CM000665.2:g.10153358G= GRCh38
NC_000003.11:g.10195042G= , CM000665.1:g.10195042G= GRCh37
NC_000003.10:g.10170042G= NCBI36
NG_008212.3:g.16724G= , LRG_322:g.16724G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3393G= ENSP00000512444.1:n.*3393G=
ENST00000256474.3:c.*3393G= MANE Select ENSP00000256474.3:n.*3393G=
NM_000551.3:c.*3393G= , LRG_322t1:c.*3393G= NP_000542.1:n.*3393G=
NM_198156.2:c.*3393G= NP_937799.1:n.*3393G=
NM_001354723.1:c.*3589G= NP_001341652.1:n.*3589G=
NM_000551.4:c.*3393G= MANE Select NP_000542.1:n.*3393G=
NM_001354723.2:c.*3589G= NP_001341652.1:n.*3589G=
NM_198156.3:c.*3393G= NP_937799.1:n.*3393G=