Canonical Allele Identifier: CA351756592
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149925T>G , CM000665.2:g.10149925T>G GRCh38
NC_000003.11:g.10191609T>G , CM000665.1:g.10191609T>G GRCh37
NC_000003.10:g.10166609T>G NCBI36
NG_008212.3:g.13291T>G , LRG_322:g.13291T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*279T>G ENSP00000512434.1:n.*279T>G
ENST00000696143.1:c.738T>G ENSP00000512435.1:n.738T>G
ENST00000696153.1:c.713T>G ENSP00000512444.1:p.Leu238Arg
ENST00000256474.3:c.602T>G MANE Select ENSP00000256474.3:p.Leu201Arg
ENST00000256474.2:c.602T>G ENSP00000256474.2:p.Leu201Arg
ENST00000345392.2:c.479T>G ENSP00000344757.2:p.Leu160Arg
ENST00000477538.1:n.738T>G
NM_000551.3:c.602T>G , LRG_322t1:c.602T>G NP_000542.1:p.Leu201Arg
NM_198156.2:c.479T>G NP_937799.1:p.Leu160Arg
NM_001354723.1:c.*156T>G NP_001341652.1:n.*156T>G
NM_000551.4:c.602T>G MANE Select NP_000542.1:p.Leu201Arg
NM_001354723.2:c.*156T>G NP_001341652.1:n.*156T>G
NM_198156.3:c.479T>G NP_937799.1:p.Leu160Arg