Canonical Allele Identifier: CA020212
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 41865
dbSNP Id: rs143985153
gnomAD v4: 3-10142116-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142116A>G , CM000665.2:g.10142116A>G GRCh38
NC_000003.11:g.10183800A>G , CM000665.1:g.10183800A>G GRCh37
NC_000003.10:g.10158800A>G NCBI36
NG_008212.3:g.5482A>G , LRG_322:g.5482A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.269A>G ENSP00000512434.1:p.Asn90Ser
ENST00000696143.1:c.269A>G ENSP00000512435.1:p.Asn90Ser
ENST00000696153.1:c.269A>G ENSP00000512444.1:p.Asn90Ser
ENST00000256474.3:c.269A>G MANE Select ENSP00000256474.3:p.Asn90Ser
ENST00000256474.2:c.269A>G ENSP00000256474.2:p.Asn90Ser
ENST00000345392.2:c.269A>G ENSP00000344757.2:p.Asn90Ser
NM_000551.3:c.269A>G , LRG_322t1:c.269A>G NP_000542.1:p.Asn90Ser
NM_198156.2:c.269A>G NP_937799.1:p.Asn90Ser
XM_011534078.1:c.269A>G XP_011532380.1:p.Asn90Ser
NM_001354723.1:c.269A>G NP_001341652.1:p.Asn90Ser
NM_000551.4:c.269A>G MANE Select NP_000542.1:p.Asn90Ser
NM_001354723.2:c.269A>G NP_001341652.1:p.Asn90Ser
NM_198156.3:c.269A>G NP_937799.1:p.Asn90Ser