Canonical Allele Identifier: CA351748071
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 665608
dbSNP Id: rs1575921452
gnomAD v4: 3-10141980-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141980C>G , CM000665.2:g.10141980C>G GRCh38
NC_000003.11:g.10183664C>G , CM000665.1:g.10183664C>G GRCh37
NC_000003.10:g.10158664C>G NCBI36
NG_008212.3:g.5346C>G , LRG_322:g.5346C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.133C>G ENSP00000512434.1:p.Pro45Ala
ENST00000696143.1:c.133C>G ENSP00000512435.1:p.Pro45Ala
ENST00000696153.1:c.133C>G ENSP00000512444.1:p.Pro45Ala
ENST00000256474.3:c.133C>G MANE Select ENSP00000256474.3:p.Pro45Ala
ENST00000256474.2:c.133C>G ENSP00000256474.2:p.Pro45Ala
ENST00000345392.2:c.133C>G ENSP00000344757.2:p.Pro45Ala
NM_000551.3:c.133C>G , LRG_322t1:c.133C>G NP_000542.1:p.Pro45Ala
NM_198156.2:c.133C>G NP_937799.1:p.Pro45Ala
XM_011534078.1:c.133C>G XP_011532380.1:p.Pro45Ala
NM_001354723.1:c.133C>G NP_001341652.1:p.Pro45Ala
NM_000551.4:c.133C>G MANE Select NP_000542.1:p.Pro45Ala
NM_001354723.2:c.133C>G NP_001341652.1:p.Pro45Ala
NM_198156.3:c.133C>G NP_937799.1:p.Pro45Ala