Canonical Allele Identifier: CA1345062941
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149921C= , CM000665.2:g.10149921C= GRCh38
NC_000003.11:g.10191605C= , CM000665.1:g.10191605C= GRCh37
NC_000003.10:g.10166605C= NCBI36
NG_008212.3:g.13287C= , LRG_322:g.13287C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*275C= ENSP00000512434.1:n.*275C=
ENST00000696143.1:c.734C= ENSP00000512435.1:n.734C=
ENST00000696153.1:c.709C= ENSP00000512444.1:p.Arg237=
ENST00000256474.3:c.598C= MANE Select ENSP00000256474.3:p.Arg200=
ENST00000256474.2:c.598C= ENSP00000256474.2:p.Arg200=
ENST00000345392.2:c.475C= ENSP00000344757.2:p.Arg159=
ENST00000477538.1:n.734C=
NM_000551.3:c.598C= , LRG_322t1:c.598C= NP_000542.1:p.Arg200=
NM_198156.2:c.475C= NP_937799.1:p.Arg159=
NM_001354723.1:c.*152C= NP_001341652.1:n.*152C=
NM_000551.4:c.598C= MANE Select NP_000542.1:p.Arg200=
NM_001354723.2:c.*152C= NP_001341652.1:n.*152C=
NM_198156.3:c.475C= NP_937799.1:p.Arg159=