Canonical Allele Identifier: CA1345065498
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152782G= , CM000665.2:g.10152782G= GRCh38
NC_000003.11:g.10194466G= , CM000665.1:g.10194466G= GRCh37
NC_000003.10:g.10169466G= NCBI36
NG_008212.3:g.16148G= , LRG_322:g.16148G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2817G= ENSP00000512444.1:n.*2817G=
ENST00000256474.3:c.*2817G= MANE Select ENSP00000256474.3:n.*2817G=
NM_000551.3:c.*2817G= , LRG_322t1:c.*2817G= NP_000542.1:n.*2817G=
NM_198156.2:c.*2817G= NP_937799.1:n.*2817G=
NM_001354723.1:c.*3013G= NP_001341652.1:n.*3013G=
NM_000551.4:c.*2817G= MANE Select NP_000542.1:n.*2817G=
NM_001354723.2:c.*3013G= NP_001341652.1:n.*3013G=
NM_198156.3:c.*2817G= NP_937799.1:n.*2817G=