Canonical Allele Identifier: CA432423343

Gene: VHL

Linked Data

• ClinVar Variation Id: 2939192
• ClinVar RCV Id: RCV003791918
• dbSNP Id: rs765224880
• gnomAD v4: 3-10149833-C-G
• MyVariant Identifiers: chr3:g.10191517C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149833C>G , CM000665.2:g.10149833C>G	GRCh38
NC_000003.11:g.10191517C>G , CM000665.1:g.10191517C>G	GRCh37
NC_000003.10:g.10166517C>G	NCBI36
NG_008212.3:g.13199C>G , LRG_322:g.13199C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*187C>G	ENSP00000512434.1:n.*187C>G
ENST00000696143.1:c.646C>G	ENSP00000512435.1:n.646C>G
ENST00000696153.1:c.621C>G	ENSP00000512444.1:p.Val207=
ENST00000256474.3:c.510C>G MANE Select	ENSP00000256474.3:p.Val170=
ENST00000256474.2:c.510C>G	ENSP00000256474.2:p.Val170=
ENST00000345392.2:c.387C>G	ENSP00000344757.2:p.Val129=
ENST00000477538.1:n.646C>G
NM_000551.3:c.510C>G , LRG_322t1:c.510C>G	NP_000542.1:p.Val170=
NM_198156.2:c.387C>G	NP_937799.1:p.Val129=
NM_001354723.1:c.*64C>G	NP_001341652.1:n.*64C>G
NM_000551.4:c.510C>G MANE Select	NP_000542.1:p.Val170=
NM_001354723.2:c.*64C>G	NP_001341652.1:n.*64C>G
NM_198156.3:c.387C>G	NP_937799.1:p.Val129=