Canonical Allele Identifier: CA70052876
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs914291596

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150289A>G , CM000665.2:g.10150289A>G GRCh38
NC_000003.11:g.10191973A>G , CM000665.1:g.10191973A>G GRCh37
NC_000003.10:g.10166973A>G NCBI36
NG_008212.3:g.13655A>G , LRG_322:g.13655A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*324A>G MANE Select ENSP00000256474.3:p.=
ENST00000256474.2:c.*324A>G ENSP00000256474.2:p.=
ENST00000345392.2:c.*324A>G ENSP00000344757.2:p.=
NM_000551.3:c.*324A>G , LRG_322t1:c.*324A>G NP_000542.1:p.=
NM_198156.2:c.*324A>G NP_937799.1:p.=
NM_001354723.1:c.*520A>G NP_001341652.1:p.=
NM_000551.4:c.*324A>G MANE Select NP_000542.1:p.=
NM_001354723.2:c.*520A>G NP_001341652.1:p.=
NM_198156.3:c.*324A>G NP_937799.1:p.=