Canonical Allele Identifier: CA432421808
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 508246
dbSNP Id: rs1474241640
gnomAD v2: 3-10188223-A-G
gnomAD v4: 3-10146539-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146539A>G , CM000665.2:g.10146539A>G GRCh38
NC_000003.11:g.10188223A>G , CM000665.1:g.10188223A>G GRCh37
NC_000003.10:g.10163223A>G NCBI36
NG_008212.3:g.9905A>G , LRG_322:g.9905A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*43A>G ENSP00000512434.1:n.*43A>G
ENST00000696143.1:c.600-3248A>G ENSP00000512435.1:n.600-3248A>G
ENST00000696153.1:c.366A>G ENSP00000512444.1:p.Ala122=
ENST00000256474.3:c.366A>G MANE Select ENSP00000256474.3:p.Ala122=
ENST00000256474.2:c.366A>G ENSP00000256474.2:p.Ala122=
ENST00000345392.2:c.341-3248A>G ENSP00000344757.2:n.341-3248A>G
ENST00000477538.1:n.502A>G
NM_000551.3:c.366A>G , LRG_322t1:c.366A>G NP_000542.1:p.Ala122=
NM_198156.2:c.341-3248A>G NP_937799.1:n.341-3248A>G
XM_011534078.1:c.*43A>G XP_011532380.1:n.*43A>G
NM_001354723.1:c.*18-3248A>G NP_001341652.1:n.*18-3248A>G
NM_000551.4:c.366A>G MANE Select NP_000542.1:p.Ala122=
NM_001354723.2:c.*18-3248A>G NP_001341652.1:n.*18-3248A>G
NM_198156.3:c.341-3248A>G NP_937799.1:n.341-3248A>G