Canonical Allele Identifier: CA351756551

Gene: VHL

Linked Data

• ClinVar Variation Id: 960801
• ClinVar RCV Id: RCV001234397
• dbSNP Id: rs1325187978
• MyVariant Identifiers: chr3:g.10191602G>A (hg19) ; chr3:g.10149918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149918G>A , CM000665.2:g.10149918G>A	GRCh38
NC_000003.11:g.10191602G>A , CM000665.1:g.10191602G>A	GRCh37
NC_000003.10:g.10166602G>A	NCBI36
NG_008212.3:g.13284G>A , LRG_322:g.13284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*272G>A	ENSP00000512434.1:n.*272G>A
ENST00000696143.1:c.731G>A	ENSP00000512435.1:n.731G>A
ENST00000696153.1:c.706G>A	ENSP00000512444.1:p.Glu236Lys
ENST00000256474.3:c.595G>A MANE Select	ENSP00000256474.3:p.Glu199Lys
ENST00000256474.2:c.595G>A	ENSP00000256474.2:p.Glu199Lys
ENST00000345392.2:c.472G>A	ENSP00000344757.2:p.Glu158Lys
ENST00000477538.1:n.731G>A
NM_000551.3:c.595G>A , LRG_322t1:c.595G>A	NP_000542.1:p.Glu199Lys
NM_198156.2:c.472G>A	NP_937799.1:p.Glu158Lys
NM_001354723.1:c.*149G>A	NP_001341652.1:n.*149G>A
NM_000551.4:c.595G>A MANE Select	NP_000542.1:p.Glu199Lys
NM_001354723.2:c.*149G>A	NP_001341652.1:n.*149G>A
NM_198156.3:c.472G>A	NP_937799.1:p.Glu158Lys