Canonical Allele Identifier: CA351756131

Gene: VHL

Linked Data

• ClinVar Variation Id: 1743762
• ClinVar RCV Id: RCV002340459 ; RCV003775986
• gnomAD v4: 3-10149810-C-A
• MyVariant Identifiers: chr3:g.10191494C>A (hg19) ; chr3:g.10149810C>A (hg38)
• CIViC: CA351756131

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149810C>A , CM000665.2:g.10149810C>A	GRCh38
NC_000003.11:g.10191494C>A , CM000665.1:g.10191494C>A	GRCh37
NC_000003.10:g.10166494C>A	NCBI36
NG_008212.3:g.13176C>A , LRG_322:g.13176C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*164C>A	ENSP00000512434.1:n.*164C>A
ENST00000696143.1:c.623C>A	ENSP00000512435.1:n.623C>A
ENST00000696153.1:c.598C>A	ENSP00000512444.1:p.Leu200Ile
ENST00000256474.3:c.487C>A MANE Select	ENSP00000256474.3:p.Leu163Ile
ENST00000256474.2:c.487C>A	ENSP00000256474.2:p.Leu163Ile
ENST00000345392.2:c.364C>A	ENSP00000344757.2:p.Leu122Ile
ENST00000477538.1:n.623C>A
NM_000551.3:c.487C>A , LRG_322t1:c.487C>A	NP_000542.1:p.Leu163Ile
NM_198156.2:c.364C>A	NP_937799.1:p.Leu122Ile
NM_001354723.1:c.*41C>A	NP_001341652.1:n.*41C>A
NM_000551.4:c.487C>A MANE Select	NP_000542.1:p.Leu163Ile
NM_001354723.2:c.*41C>A	NP_001341652.1:n.*41C>A
NM_198156.3:c.364C>A	NP_937799.1:p.Leu122Ile