Canonical Allele Identifier: CA1345065636
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153005G= , CM000665.2:g.10153005G= GRCh38
NC_000003.11:g.10194689G= , CM000665.1:g.10194689G= GRCh37
NC_000003.10:g.10169689G= NCBI36
NG_008212.3:g.16371G= , LRG_322:g.16371G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3040G= ENSP00000512444.1:n.*3040G=
ENST00000256474.3:c.*3040G= MANE Select ENSP00000256474.3:n.*3040G=
NM_000551.3:c.*3040G= , LRG_322t1:c.*3040G= NP_000542.1:n.*3040G=
NM_198156.2:c.*3040G= NP_937799.1:n.*3040G=
NM_001354723.1:c.*3236G= NP_001341652.1:n.*3236G=
NM_000551.4:c.*3040G= MANE Select NP_000542.1:n.*3040G=
NM_001354723.2:c.*3236G= NP_001341652.1:n.*3236G=
NM_198156.3:c.*3040G= NP_937799.1:n.*3040G=