Canonical Allele Identifier: CA041926

Gene: VHL

Linked Data

• ClinVar Variation Id: 384098
• ClinVar RCV Id: RCV000472769 ; RCV000560971 ; RCV001703841 ; RCV004000406
• dbSNP Id: rs747805018
• ExAC: 3:10191619 G / A
• gnomAD v2: 3-10191619-G-A
• gnomAD v3: 3-10149935-G-A
• gnomAD v4: 3-10149935-G-A
• MyVariant Identifiers: chr3:g.10191619G>A (hg19) ; chr3:g.10149935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149935G>A , CM000665.2:g.10149935G>A	GRCh38
NC_000003.11:g.10191619G>A , CM000665.1:g.10191619G>A	GRCh37
NC_000003.10:g.10166619G>A	NCBI36
NG_008212.3:g.13301G>A , LRG_322:g.13301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*289G>A	ENSP00000512434.1:n.*289G>A
ENST00000696143.1:c.748G>A	ENSP00000512435.1:n.748G>A
ENST00000696153.1:c.723G>A	ENSP00000512444.1:p.Glu241=
ENST00000256474.3:c.612G>A MANE Select	ENSP00000256474.3:p.Glu204=
ENST00000256474.2:c.612G>A	ENSP00000256474.2:p.Glu204=
ENST00000345392.2:c.489G>A	ENSP00000344757.2:p.Glu163=
ENST00000477538.1:n.748G>A
NM_000551.3:c.612G>A , LRG_322t1:c.612G>A	NP_000542.1:p.Glu204=
NM_198156.2:c.489G>A	NP_937799.1:p.Glu163=
NM_001354723.1:c.*166G>A	NP_001341652.1:n.*166G>A
NM_000551.4:c.612G>A MANE Select	NP_000542.1:p.Glu204=
NM_001354723.2:c.*166G>A	NP_001341652.1:n.*166G>A
NM_198156.3:c.489G>A	NP_937799.1:p.Glu163=