Canonical Allele Identifier: CA351756234

Gene: VHL

Linked Data

• dbSNP Id: rs2125130610
• gnomAD v4: 3-10149850-G-A
• COSMIC: COSM14308
• MyVariant Identifiers: chr3:g.10191534G>A (hg19) ; chr3:g.10149850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149850G>A , CM000665.2:g.10149850G>A	GRCh38
NC_000003.11:g.10191534G>A , CM000665.1:g.10191534G>A	GRCh37
NC_000003.10:g.10166534G>A	NCBI36
NG_008212.3:g.13216G>A , LRG_322:g.13216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*204G>A	ENSP00000512434.1:n.*204G>A
ENST00000696143.1:c.663G>A	ENSP00000512435.1:n.663G>A
ENST00000696153.1:c.638G>A	ENSP00000512444.1:p.Arg213Lys
ENST00000256474.3:c.527G>A MANE Select	ENSP00000256474.3:p.Arg176Lys
ENST00000256474.2:c.527G>A	ENSP00000256474.2:p.Arg176Lys
ENST00000345392.2:c.404G>A	ENSP00000344757.2:p.Arg135Lys
ENST00000477538.1:n.663G>A
NM_000551.3:c.527G>A , LRG_322t1:c.527G>A	NP_000542.1:p.Arg176Lys
NM_198156.2:c.404G>A	NP_937799.1:p.Arg135Lys
NM_001354723.1:c.*81G>A	NP_001341652.1:n.*81G>A
NM_000551.4:c.527G>A MANE Select	NP_000542.1:p.Arg176Lys
NM_001354723.2:c.*81G>A	NP_001341652.1:n.*81G>A
NM_198156.3:c.404G>A	NP_937799.1:p.Arg135Lys