Canonical Allele Identifier: CA351756194

Gene: VHL

Linked Data

• ClinVar Variation Id: 486713
• ClinVar RCV Id: RCV000569840 ; RCV001210329 ; RCV002483543 ; RCV003322793
• dbSNP Id: rs1553620326
• gnomAD v4: 3-10149831-G-A
• MyVariant Identifiers: chr3:g.10191515G>A (hg19) ; chr3:g.10149831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149831G>A , CM000665.2:g.10149831G>A	GRCh38
NC_000003.11:g.10191515G>A , CM000665.1:g.10191515G>A	GRCh37
NC_000003.10:g.10166515G>A	NCBI36
NG_008212.3:g.13197G>A , LRG_322:g.13197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*185G>A	ENSP00000512434.1:n.*185G>A
ENST00000696143.1:c.644G>A	ENSP00000512435.1:n.644G>A
ENST00000696153.1:c.619G>A	ENSP00000512444.1:p.Val207Ile
ENST00000256474.3:c.508G>A MANE Select	ENSP00000256474.3:p.Val170Ile
ENST00000256474.2:c.508G>A	ENSP00000256474.2:p.Val170Ile
ENST00000345392.2:c.385G>A	ENSP00000344757.2:p.Val129Ile
ENST00000477538.1:n.644G>A
NM_000551.3:c.508G>A , LRG_322t1:c.508G>A	NP_000542.1:p.Val170Ile
NM_198156.2:c.385G>A	NP_937799.1:p.Val129Ile
NM_001354723.1:c.*62G>A	NP_001341652.1:n.*62G>A
NM_000551.4:c.508G>A MANE Select	NP_000542.1:p.Val170Ile
NM_001354723.2:c.*62G>A	NP_001341652.1:n.*62G>A
NM_198156.3:c.385G>A	NP_937799.1:p.Val129Ile