Canonical Allele Identifier: CA020190

Gene: VHL

Linked Data

• ClinVar Variation Id: 135953
• ClinVar RCV Id: RCV000123104 ; RCV000524493 ; RCV001657771 ; RCV002426672 ; RCV003460872
• dbSNP Id: rs587780730
• ExAC: 3:10183556 G / A
• gnomAD v2: 3-10183556-G-A
• gnomAD v3: 3-10141872-G-A
• gnomAD v4: 3-10141872-G-A
• MyVariant Identifiers: chr3:g.10183556G>A (hg19) ; chr3:g.10141872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141872G>A , CM000665.2:g.10141872G>A	GRCh38
NC_000003.11:g.10183556G>A , CM000665.1:g.10183556G>A	GRCh37
NC_000003.10:g.10158556G>A	NCBI36
NG_008212.3:g.5238G>A , LRG_322:g.5238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.25G>A	ENSP00000512434.1:p.Asp9Asn
ENST00000696143.1:c.25G>A	ENSP00000512435.1:p.Asp9Asn
ENST00000696153.1:c.25G>A	ENSP00000512444.1:p.Asp9Asn
ENST00000256474.3:c.25G>A MANE Select	ENSP00000256474.3:p.Asp9Asn
ENST00000256474.2:c.25G>A	ENSP00000256474.2:p.Asp9Asn
ENST00000345392.2:c.25G>A	ENSP00000344757.2:p.Asp9Asn
NM_000551.3:c.25G>A , LRG_322t1:c.25G>A	NP_000542.1:p.Asp9Asn
NM_198156.2:c.25G>A	NP_937799.1:p.Asp9Asn
XM_011534078.1:c.25G>A	XP_011532380.1:p.Asp9Asn
NM_001354723.1:c.25G>A	NP_001341652.1:p.Asp9Asn
NM_000551.4:c.25G>A MANE Select	NP_000542.1:p.Asp9Asn
NM_001354723.2:c.25G>A	NP_001341652.1:p.Asp9Asn
NM_198156.3:c.25G>A	NP_937799.1:p.Asp9Asn