Canonical Allele Identifier: CA041791

Gene: VHL

Linked Data

• ClinVar Variation Id: 421558
• ClinVar RCV Id: RCV000479035 ; RCV000823835 ; RCV001143974 ; RCV001024771 ; RCV003464021 ; RCV003401545
• dbSNP Id: rs754016774
• ExAC: 3:10191606 G / A
• gnomAD v2: 3-10191606-G-A
• gnomAD v3: 3-10149922-G-A
• gnomAD v4: 3-10149922-G-A
• MyVariant Identifiers: chr3:g.10191606G>A (hg19) ; chr3:g.10149922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149922G>A , CM000665.2:g.10149922G>A	GRCh38
NC_000003.11:g.10191606G>A , CM000665.1:g.10191606G>A	GRCh37
NC_000003.10:g.10166606G>A	NCBI36
NG_008212.3:g.13288G>A , LRG_322:g.13288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*276G>A	ENSP00000512434.1:n.*276G>A
ENST00000696143.1:c.735G>A	ENSP00000512435.1:n.735G>A
ENST00000696153.1:c.710G>A	ENSP00000512444.1:p.Arg237Gln
ENST00000256474.3:c.599G>A MANE Select	ENSP00000256474.3:p.Arg200Gln
ENST00000256474.2:c.599G>A	ENSP00000256474.2:p.Arg200Gln
ENST00000345392.2:c.476G>A	ENSP00000344757.2:p.Arg159Gln
ENST00000477538.1:n.735G>A
NM_000551.3:c.599G>A , LRG_322t1:c.599G>A	NP_000542.1:p.Arg200Gln
NM_198156.2:c.476G>A	NP_937799.1:p.Arg159Gln
NM_001354723.1:c.*153G>A	NP_001341652.1:n.*153G>A
NM_000551.4:c.599G>A MANE Select	NP_000542.1:p.Arg200Gln
NM_001354723.2:c.*153G>A	NP_001341652.1:n.*153G>A
NM_198156.3:c.476G>A	NP_937799.1:p.Arg159Gln