Canonical Allele Identifier: CA1345063510
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150315C= , CM000665.2:g.10150315C= GRCh38
NC_000003.11:g.10191999C= , CM000665.1:g.10191999C= GRCh37
NC_000003.10:g.10166999C= NCBI36
NG_008212.3:g.13681C= , LRG_322:g.13681C=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*669C= ENSP00000512434.1:n.*669C=
ENST00000696143.1:c.1128C= ENSP00000512435.1:n.1128C=
ENST00000696153.1:c.*350C= ENSP00000512444.1:n.*350C=
ENST00000256474.3:c.*350C= MANE Select ENSP00000256474.3:n.*350C=
ENST00000256474.2:c.*350C= ENSP00000256474.2:n.*350C=
ENST00000345392.2:c.*350C= ENSP00000344757.2:n.*350C=
NM_000551.3:c.*350C= , LRG_322t1:c.*350C= NP_000542.1:n.*350C=
NM_198156.2:c.*350C= NP_937799.1:n.*350C=
NM_001354723.1:c.*546C= NP_001341652.1:n.*546C=
NM_000551.4:c.*350C= MANE Select NP_000542.1:n.*350C=
NM_001354723.2:c.*546C= NP_001341652.1:n.*546C=
NM_198156.3:c.*350C= NP_937799.1:n.*350C=