Canonical Allele Identifier: CA351749128
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 584568
dbSNP Id: rs1295818809
gnomAD v2: 3-10183749-A-G
gnomAD v4: 3-10142065-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142065A>G , CM000665.2:g.10142065A>G GRCh38
NC_000003.11:g.10183749A>G , CM000665.1:g.10183749A>G GRCh37
NC_000003.10:g.10158749A>G NCBI36
NG_008212.3:g.5431A>G , LRG_322:g.5431A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.218A>G ENSP00000512434.1:p.Gln73Arg
ENST00000696143.1:c.218A>G ENSP00000512435.1:p.Gln73Arg
ENST00000696153.1:c.218A>G ENSP00000512444.1:p.Gln73Arg
ENST00000256474.3:c.218A>G MANE Select ENSP00000256474.3:p.Gln73Arg
ENST00000256474.2:c.218A>G ENSP00000256474.2:p.Gln73Arg
ENST00000345392.2:c.218A>G ENSP00000344757.2:p.Gln73Arg
NM_000551.3:c.218A>G , LRG_322t1:c.218A>G NP_000542.1:p.Gln73Arg
NM_198156.2:c.218A>G NP_937799.1:p.Gln73Arg
XM_011534078.1:c.218A>G XP_011532380.1:p.Gln73Arg
NM_001354723.1:c.218A>G NP_001341652.1:p.Gln73Arg
NM_000551.4:c.218A>G MANE Select NP_000542.1:p.Gln73Arg
NM_001354723.2:c.218A>G NP_001341652.1:p.Gln73Arg
NM_198156.3:c.218A>G NP_937799.1:p.Gln73Arg