Canonical Allele Identifier: CA70052552

Gene: VHL

Linked Data

• ClinVar Variation Id: 825946
• ClinVar RCV Id: RCV001024492 ; RCV001294333
• dbSNP Id: rs902694906
• gnomAD v3: 3-10149898-C-G
• gnomAD v4: 3-10149898-C-G
• MyVariant Identifiers: chr3:g.10191582C>G (hg19) ; chr3:g.10149898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149898C>G , CM000665.2:g.10149898C>G	GRCh38
NC_000003.11:g.10191582C>G , CM000665.1:g.10191582C>G	GRCh37
NC_000003.10:g.10166582C>G	NCBI36
NG_008212.3:g.13264C>G , LRG_322:g.13264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*252C>G	ENSP00000512434.1:n.*252C>G
ENST00000696143.1:c.711C>G	ENSP00000512435.1:n.711C>G
ENST00000696153.1:c.686C>G	ENSP00000512444.1:p.Pro229Arg
ENST00000256474.3:c.575C>G MANE Select	ENSP00000256474.3:p.Pro192Arg
ENST00000256474.2:c.575C>G	ENSP00000256474.2:p.Pro192Arg
ENST00000345392.2:c.452C>G	ENSP00000344757.2:p.Pro151Arg
ENST00000477538.1:n.711C>G
NM_000551.3:c.575C>G , LRG_322t1:c.575C>G	NP_000542.1:p.Pro192Arg
NM_198156.2:c.452C>G	NP_937799.1:p.Pro151Arg
NM_001354723.1:c.*129C>G	NP_001341652.1:n.*129C>G
NM_000551.4:c.575C>G MANE Select	NP_000542.1:p.Pro192Arg
NM_001354723.2:c.*129C>G	NP_001341652.1:n.*129C>G
NM_198156.3:c.452C>G	NP_937799.1:p.Pro151Arg