Canonical Allele Identifier: CA041357

Gene: VHL

Linked Data

• ClinVar Variation Id: 2600046
• ClinVar RCV Id: RCV003347934 ; RCV003777533
• dbSNP Id: rs765224880
• ExAC: 3:10191517 C / A
• gnomAD v2: 3-10191517-C-A
• gnomAD v3: 3-10149833-C-A
• gnomAD v4: 3-10149833-C-A
• MyVariant Identifiers: chr3:g.10191517C>A (hg19) ; chr3:g.10149833C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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