Canonical Allele Identifier: CA357046

Gene: VHL

Linked Data

• ClinVar Variation Id: 223222
• ClinVar RCV Id: RCV000216737 ; RCV000208810 ; RCV000824251 ; RCV001535844 ; RCV001542804
• dbSNP Id: rs5030816
• COSMIC: COSM18054
• MyVariant Identifiers: chr3:g.10191469A>G (hg19) ; chr3:g.10149785A>G (hg38)
• CIViC: CA357046
• MutSpliceDB: CA357046

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149785A>G , CM000665.2:g.10149785A>G	GRCh38
NC_000003.11:g.10191469A>G , CM000665.1:g.10191469A>G	GRCh37
NC_000003.10:g.10166469A>G	NCBI36
NG_008212.3:g.13151A>G , LRG_322:g.13151A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-2A>G	ENSP00000512434.1:n.*141-2A>G
ENST00000696143.1:c.600-2A>G	ENSP00000512435.1:n.600-2A>G
ENST00000696153.1:c.575-2A>G	ENSP00000512444.1:n.575-2A>G
ENST00000256474.3:c.464-2A>G MANE Select	ENSP00000256474.3:n.464-2A>G
ENST00000256474.2:c.464-2A>G	ENSP00000256474.2:n.464-2A>G
ENST00000345392.2:c.341-2A>G	ENSP00000344757.2:n.341-2A>G
ENST00000477538.1:n.600-2A>G
NM_000551.3:c.464-2A>G , LRG_322t1:c.464-2A>G	NP_000542.1:n.464-2A>G
NM_198156.2:c.341-2A>G	NP_937799.1:n.341-2A>G
NM_001354723.1:c.*18-2A>G	NP_001341652.1:n.*18-2A>G
NM_000551.4:c.464-2A>G MANE Select	NP_000542.1:n.464-2A>G
NM_001354723.2:c.*18-2A>G	NP_001341652.1:n.*18-2A>G
NM_198156.3:c.341-2A>G	NP_937799.1:n.341-2A>G