Canonical Allele Identifier: CA351748514

Gene: VHL

Linked Data

• ClinVar Variation Id: 574726
• ClinVar RCV Id: RCV000696740
• dbSNP Id: rs1328776664
• gnomAD v4: 3-10142011-A-G
• MyVariant Identifiers: chr3:g.10183695A>G (hg19) ; chr3:g.10142011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142011A>G , CM000665.2:g.10142011A>G	GRCh38
NC_000003.11:g.10183695A>G , CM000665.1:g.10183695A>G	GRCh37
NC_000003.10:g.10158695A>G	NCBI36
NG_008212.3:g.5377A>G , LRG_322:g.5377A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.164A>G	ENSP00000512434.1:p.Glu55Gly
ENST00000696143.1:c.164A>G	ENSP00000512435.1:p.Glu55Gly
ENST00000696153.1:c.164A>G	ENSP00000512444.1:p.Glu55Gly
ENST00000256474.3:c.164A>G MANE Select	ENSP00000256474.3:p.Glu55Gly
ENST00000256474.2:c.164A>G	ENSP00000256474.2:p.Glu55Gly
ENST00000345392.2:c.164A>G	ENSP00000344757.2:p.Glu55Gly
NM_000551.3:c.164A>G , LRG_322t1:c.164A>G	NP_000542.1:p.Glu55Gly
NM_198156.2:c.164A>G	NP_937799.1:p.Glu55Gly
XM_011534078.1:c.164A>G	XP_011532380.1:p.Glu55Gly
NM_001354723.1:c.164A>G	NP_001341652.1:p.Glu55Gly
NM_000551.4:c.164A>G MANE Select	NP_000542.1:p.Glu55Gly
NM_001354723.2:c.164A>G	NP_001341652.1:p.Glu55Gly
NM_198156.3:c.164A>G	NP_937799.1:p.Glu55Gly