Canonical Allele Identifier: CA432423036

Gene: VHL

Linked Data

• ClinVar Variation Id: 1661756
• ClinVar RCV Id: RCV002178894 ; RCV003161666
• dbSNP Id: rs1696354036
• gnomAD v3: 3-10149788-G-A
• gnomAD v4: 3-10149788-G-A
• MyVariant Identifiers: chr3:g.10191472G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149788G>A , CM000665.2:g.10149788G>A	GRCh38
NC_000003.11:g.10191472G>A , CM000665.1:g.10191472G>A	GRCh37
NC_000003.10:g.10166472G>A	NCBI36
NG_008212.3:g.13154G>A , LRG_322:g.13154G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*142G>A	ENSP00000512434.1:n.*142G>A
ENST00000696143.1:c.601G>A	ENSP00000512435.1:n.601G>A
ENST00000696153.1:c.576G>A	ENSP00000512444.1:p.Val192=
ENST00000256474.3:c.465G>A MANE Select	ENSP00000256474.3:p.Val155=
ENST00000256474.2:c.465G>A	ENSP00000256474.2:p.Val155=
ENST00000345392.2:c.342G>A	ENSP00000344757.2:p.Val114=
ENST00000477538.1:n.601G>A
NM_000551.3:c.465G>A , LRG_322t1:c.465G>A	NP_000542.1:p.Val155=
NM_198156.2:c.342G>A	NP_937799.1:p.Val114=
NM_001354723.1:c.*19G>A	NP_001341652.1:n.*19G>A
NM_000551.4:c.465G>A MANE Select	NP_000542.1:p.Val155=
NM_001354723.2:c.*19G>A	NP_001341652.1:n.*19G>A
NM_198156.3:c.342G>A	NP_937799.1:p.Val114=