Canonical Allele Identifier: CA70042269
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 456595
dbSNP Id: rs912159589
gnomAD v2: 3-10183630-G-C
gnomAD v3: 3-10141946-G-C
gnomAD v4: 3-10141946-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141946G>C , CM000665.2:g.10141946G>C GRCh38
NC_000003.11:g.10183630G>C , CM000665.1:g.10183630G>C GRCh37
NC_000003.10:g.10158630G>C NCBI36
NG_008212.3:g.5312G>C , LRG_322:g.5312G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.99G>C ENSP00000512434.1:p.Ser33=
ENST00000696143.1:c.99G>C ENSP00000512435.1:p.Ser33=
ENST00000696153.1:c.99G>C ENSP00000512444.1:p.Ser33=
ENST00000256474.3:c.99G>C MANE Select ENSP00000256474.3:p.Ser33=
ENST00000256474.2:c.99G>C ENSP00000256474.2:p.Ser33=
ENST00000345392.2:c.99G>C ENSP00000344757.2:p.Ser33=
NM_000551.3:c.99G>C , LRG_322t1:c.99G>C NP_000542.1:p.Ser33=
NM_198156.2:c.99G>C NP_937799.1:p.Ser33=
XM_011534078.1:c.99G>C XP_011532380.1:p.Ser33=
NM_001354723.1:c.99G>C NP_001341652.1:p.Ser33=
NM_000551.4:c.99G>C MANE Select NP_000542.1:p.Ser33=
NM_001354723.2:c.99G>C NP_001341652.1:p.Ser33=
NM_198156.3:c.99G>C NP_937799.1:p.Ser33=