Canonical Allele Identifier: CA432423837

Gene: VHL

Linked Data

• ClinVar Variation Id: 826088
• ClinVar RCV Id: RCV001024740
• dbSNP Id: rs1387975369
• gnomAD v2: 3-10191604-G-A
• gnomAD v4: 3-10149920-G-A
• MyVariant Identifiers: chr3:g.10191604G>A (hg19) ; chr3:g.10149920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149920G>A , CM000665.2:g.10149920G>A	GRCh38
NC_000003.11:g.10191604G>A , CM000665.1:g.10191604G>A	GRCh37
NC_000003.10:g.10166604G>A	NCBI36
NG_008212.3:g.13286G>A , LRG_322:g.13286G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*274G>A	ENSP00000512434.1:n.*274G>A
ENST00000696143.1:c.733G>A	ENSP00000512435.1:n.733G>A
ENST00000696153.1:c.708G>A	ENSP00000512444.1:p.Glu236=
ENST00000256474.3:c.597G>A MANE Select	ENSP00000256474.3:p.Glu199=
ENST00000256474.2:c.597G>A	ENSP00000256474.2:p.Glu199=
ENST00000345392.2:c.474G>A	ENSP00000344757.2:p.Glu158=
ENST00000477538.1:n.733G>A
NM_000551.3:c.597G>A , LRG_322t1:c.597G>A	NP_000542.1:p.Glu199=
NM_198156.2:c.474G>A	NP_937799.1:p.Glu158=
NM_001354723.1:c.*151G>A	NP_001341652.1:n.*151G>A
NM_000551.4:c.597G>A MANE Select	NP_000542.1:p.Glu199=
NM_001354723.2:c.*151G>A	NP_001341652.1:n.*151G>A
NM_198156.3:c.474G>A	NP_937799.1:p.Glu158=