Canonical Allele Identifier: CA432423827

Gene: VHL

Linked Data

• ClinVar Variation Id: 1142347
• ClinVar RCV Id: RCV001480144
• dbSNP Id: rs1575932599
• COSMIC: COSM14343
• MyVariant Identifiers: chr3:g.10191601G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149917G>A , CM000665.2:g.10149917G>A	GRCh38
NC_000003.11:g.10191601G>A , CM000665.1:g.10191601G>A	GRCh37
NC_000003.10:g.10166601G>A	NCBI36
NG_008212.3:g.13283G>A , LRG_322:g.13283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*271G>A	ENSP00000512434.1:n.*271G>A
ENST00000696143.1:c.730G>A	ENSP00000512435.1:n.730G>A
ENST00000696153.1:c.705G>A	ENSP00000512444.1:p.Leu235=
ENST00000256474.3:c.594G>A MANE Select	ENSP00000256474.3:p.Leu198=
ENST00000256474.2:c.594G>A	ENSP00000256474.2:p.Leu198=
ENST00000345392.2:c.471G>A	ENSP00000344757.2:p.Leu157=
ENST00000477538.1:n.730G>A
NM_000551.3:c.594G>A , LRG_322t1:c.594G>A	NP_000542.1:p.Leu198=
NM_198156.2:c.471G>A	NP_937799.1:p.Leu157=
NM_001354723.1:c.*148G>A	NP_001341652.1:n.*148G>A
NM_000551.4:c.594G>A MANE Select	NP_000542.1:p.Leu198=
NM_001354723.2:c.*148G>A	NP_001341652.1:n.*148G>A
NM_198156.3:c.471G>A	NP_937799.1:p.Leu157=