Canonical Allele Identifier: CA70052875
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs146298896

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150287A>G , CM000665.2:g.10150287A>G GRCh38
NC_000003.11:g.10191971A>G , CM000665.1:g.10191971A>G GRCh37
NC_000003.10:g.10166971A>G NCBI36
NG_008212.3:g.13653A>G , LRG_322:g.13653A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*322A>G MANE Select ENSP00000256474.3:p.=
ENST00000256474.2:c.*322A>G ENSP00000256474.2:p.=
ENST00000345392.2:c.*322A>G ENSP00000344757.2:p.=
NM_000551.3:c.*322A>G , LRG_322t1:c.*322A>G NP_000542.1:p.=
NM_198156.2:c.*322A>G NP_937799.1:p.=
NM_001354723.1:c.*518A>G NP_001341652.1:p.=
NM_000551.4:c.*322A>G MANE Select NP_000542.1:p.=
NM_001354723.2:c.*518A>G NP_001341652.1:p.=
NM_198156.3:c.*322A>G NP_937799.1:p.=