Canonical Allele Identifier: CA041671

Gene: VHL

Linked Data

• ClinVar Variation Id: 1345670
• ClinVar RCV Id: RCV002037463
• dbSNP Id: rs762790375
• ExAC: 3:10191572 G / A
• gnomAD v2: 3-10191572-G-A
• gnomAD v3: 3-10149888-G-A
• gnomAD v4: 3-10149888-G-A
• COSMIC: COSM17920
• MyVariant Identifiers: chr3:g.10191572G>A (hg19) ; chr3:g.10149888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149888G>A , CM000665.2:g.10149888G>A	GRCh38
NC_000003.11:g.10191572G>A , CM000665.1:g.10191572G>A	GRCh37
NC_000003.10:g.10166572G>A	NCBI36
NG_008212.3:g.13254G>A , LRG_322:g.13254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*242G>A	ENSP00000512434.1:n.*242G>A
ENST00000696143.1:c.701G>A	ENSP00000512435.1:n.701G>A
ENST00000696153.1:c.676G>A	ENSP00000512444.1:p.Glu226Lys
ENST00000256474.3:c.565G>A MANE Select	ENSP00000256474.3:p.Glu189Lys
ENST00000256474.2:c.565G>A	ENSP00000256474.2:p.Glu189Lys
ENST00000345392.2:c.442G>A	ENSP00000344757.2:p.Glu148Lys
ENST00000477538.1:n.701G>A
NM_000551.3:c.565G>A , LRG_322t1:c.565G>A	NP_000542.1:p.Glu189Lys
NM_198156.2:c.442G>A	NP_937799.1:p.Glu148Lys
NM_001354723.1:c.*119G>A	NP_001341652.1:n.*119G>A
NM_000551.4:c.565G>A MANE Select	NP_000542.1:p.Glu189Lys
NM_001354723.2:c.*119G>A	NP_001341652.1:n.*119G>A
NM_198156.3:c.442G>A	NP_937799.1:p.Glu148Lys