Canonical Allele Identifier: CA351756159

Gene: VHL

Linked Data

• ClinVar Variation Id: 2624782
• ClinVar RCV Id: RCV003387014 ; RCV003778104
• dbSNP Id: rs1575932103
• COSMIC: COSM18263
• MyVariant Identifiers: chr3:g.10191500G>A (hg19) ; chr3:g.10149816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149816G>A , CM000665.2:g.10149816G>A	GRCh38
NC_000003.11:g.10191500G>A , CM000665.1:g.10191500G>A	GRCh37
NC_000003.10:g.10166500G>A	NCBI36
NG_008212.3:g.13182G>A , LRG_322:g.13182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*170G>A	ENSP00000512434.1:n.*170G>A
ENST00000696143.1:c.629G>A	ENSP00000512435.1:n.629G>A
ENST00000696153.1:c.604G>A	ENSP00000512444.1:p.Val202Ile
ENST00000256474.3:c.493G>A MANE Select	ENSP00000256474.3:p.Val165Ile
ENST00000256474.2:c.493G>A	ENSP00000256474.2:p.Val165Ile
ENST00000345392.2:c.370G>A	ENSP00000344757.2:p.Val124Ile
ENST00000477538.1:n.629G>A
NM_000551.3:c.493G>A , LRG_322t1:c.493G>A	NP_000542.1:p.Val165Ile
NM_198156.2:c.370G>A	NP_937799.1:p.Val124Ile
NM_001354723.1:c.*47G>A	NP_001341652.1:n.*47G>A
NM_000551.4:c.493G>A MANE Select	NP_000542.1:p.Val165Ile
NM_001354723.2:c.*47G>A	NP_001341652.1:n.*47G>A
NM_198156.3:c.370G>A	NP_937799.1:p.Val124Ile