Canonical Allele Identifier: CA70052880
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs947143104
gnomAD v3: 3-10150316-A-G
gnomAD v4: 3-10150316-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150316A>G , CM000665.2:g.10150316A>G GRCh38
NC_000003.11:g.10192000A>G , CM000665.1:g.10192000A>G GRCh37
NC_000003.10:g.10167000A>G NCBI36
NG_008212.3:g.13682A>G , LRG_322:g.13682A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*670A>G ENSP00000512434.1:n.*670A>G
ENST00000696143.1:c.1129A>G ENSP00000512435.1:n.1129A>G
ENST00000696153.1:c.*351A>G ENSP00000512444.1:n.*351A>G
ENST00000256474.3:c.*351A>G MANE Select ENSP00000256474.3:n.*351A>G
ENST00000256474.2:c.*351A>G ENSP00000256474.2:n.*351A>G
ENST00000345392.2:c.*351A>G ENSP00000344757.2:n.*351A>G
NM_000551.3:c.*351A>G , LRG_322t1:c.*351A>G NP_000542.1:n.*351A>G
NM_198156.2:c.*351A>G NP_937799.1:n.*351A>G
NM_001354723.1:c.*547A>G NP_001341652.1:n.*547A>G
NM_000551.4:c.*351A>G MANE Select NP_000542.1:n.*351A>G
NM_001354723.2:c.*547A>G NP_001341652.1:n.*547A>G
NM_198156.3:c.*351A>G NP_937799.1:n.*351A>G