Canonical Allele Identifier: CA042053
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411976
dbSNP Id: rs745338799
gnomAD v2: 3-10183604-C-G
gnomAD v3: 3-10141920-C-G
gnomAD v4: 3-10141920-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141920C>G , CM000665.2:g.10141920C>G GRCh38
NC_000003.11:g.10183604C>G , CM000665.1:g.10183604C>G GRCh37
NC_000003.10:g.10158604C>G NCBI36
NG_008212.3:g.5286C>G , LRG_322:g.5286C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.73C>G ENSP00000512434.1:p.Pro25Ala
ENST00000696143.1:c.73C>G ENSP00000512435.1:p.Pro25Ala
ENST00000696153.1:c.73C>G ENSP00000512444.1:p.Pro25Ala
ENST00000256474.3:c.73C>G MANE Select ENSP00000256474.3:p.Pro25Ala
ENST00000256474.2:c.73C>G ENSP00000256474.2:p.Pro25Ala
ENST00000345392.2:c.73C>G ENSP00000344757.2:p.Pro25Ala
NM_000551.3:c.73C>G , LRG_322t1:c.73C>G NP_000542.1:p.Pro25Ala
NM_198156.2:c.73C>G NP_937799.1:p.Pro25Ala
XM_011534078.1:c.73C>G XP_011532380.1:p.Pro25Ala
NM_001354723.1:c.73C>G NP_001341652.1:p.Pro25Ala
NM_000551.4:c.73C>G MANE Select NP_000542.1:p.Pro25Ala
NM_001354723.2:c.73C>G NP_001341652.1:p.Pro25Ala
NM_198156.3:c.73C>G NP_937799.1:p.Pro25Ala