Canonical Allele Identifier: CA70049117
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs566297318
gnomAD v2: 3-10187922-A-G
gnomAD v3: 3-10146238-A-G
gnomAD v4: 3-10146238-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146238A>G , CM000665.2:g.10146238A>G GRCh38
NC_000003.11:g.10187922A>G , CM000665.1:g.10187922A>G GRCh37
NC_000003.10:g.10162922A>G NCBI36
NG_008212.3:g.9604A>G , LRG_322:g.9604A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*18-276A>G ENSP00000512434.1:n.*18-276A>G
ENST00000696143.1:c.599+3217A>G ENSP00000512435.1:n.599+3217A>G
ENST00000696153.1:c.341-276A>G ENSP00000512444.1:n.341-276A>G
ENST00000256474.3:c.341-276A>G MANE Select ENSP00000256474.3:n.341-276A>G
ENST00000256474.2:c.341-276A>G ENSP00000256474.2:n.341-276A>G
ENST00000345392.2:c.341-3549A>G ENSP00000344757.2:n.341-3549A>G
ENST00000477538.1:n.477-276A>G
NM_000551.3:c.341-276A>G , LRG_322t1:c.341-276A>G NP_000542.1:n.341-276A>G
NM_198156.2:c.341-3549A>G NP_937799.1:n.341-3549A>G
XM_011534078.1:c.*18-276A>G XP_011532380.1:n.*18-276A>G
NM_001354723.1:c.*17+3217A>G NP_001341652.1:n.*17+3217A>G
NM_000551.4:c.341-276A>G MANE Select NP_000542.1:n.341-276A>G
NM_001354723.2:c.*17+3217A>G NP_001341652.1:n.*17+3217A>G
NM_198156.3:c.341-3549A>G NP_937799.1:n.341-3549A>G