Canonical Allele Identifier: CA70052427

Gene: VHL

Linked Data

• ClinVar Variation Id: 1748122
• ClinVar RCV Id: RCV002351812 ; RCV003103185
• dbSNP Id: rs779157605
• gnomAD v4: 3-10149875-C-G
• MyVariant Identifiers: chr3:g.10191559C>G (hg19) ; chr3:g.10149875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149875C>G , CM000665.2:g.10149875C>G	GRCh38
NC_000003.11:g.10191559C>G , CM000665.1:g.10191559C>G	GRCh37
NC_000003.10:g.10166559C>G	NCBI36
NG_008212.3:g.13241C>G , LRG_322:g.13241C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*229C>G	ENSP00000512434.1:n.*229C>G
ENST00000696143.1:c.688C>G	ENSP00000512435.1:n.688C>G
ENST00000696153.1:c.663C>G	ENSP00000512444.1:p.Leu221=
ENST00000256474.3:c.552C>G MANE Select	ENSP00000256474.3:p.Leu184=
ENST00000256474.2:c.552C>G	ENSP00000256474.2:p.Leu184=
ENST00000345392.2:c.429C>G	ENSP00000344757.2:p.Leu143=
ENST00000477538.1:n.688C>G
NM_000551.3:c.552C>G , LRG_322t1:c.552C>G	NP_000542.1:p.Leu184=
NM_198156.2:c.429C>G	NP_937799.1:p.Leu143=
NM_001354723.1:c.*106C>G	NP_001341652.1:n.*106C>G
NM_000551.4:c.552C>G MANE Select	NP_000542.1:p.Leu184=
NM_001354723.2:c.*106C>G	NP_001341652.1:n.*106C>G
NM_198156.3:c.429C>G	NP_937799.1:p.Leu143=