Canonical Allele Identifier: CA351750794

Gene: VHL

Linked Data

• ClinVar Variation Id: 1950559
• ClinVar RCV Id: RCV002681325
• dbSNP Id: rs2125125226
• MyVariant Identifiers: chr3:g.10183812A>T (hg19) ; chr3:g.10142128A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142128A>T , CM000665.2:g.10142128A>T	GRCh38
NC_000003.11:g.10183812A>T , CM000665.1:g.10183812A>T	GRCh37
NC_000003.10:g.10158812A>T	NCBI36
NG_008212.3:g.5494A>T , LRG_322:g.5494A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.281A>T	ENSP00000512434.1:p.Glu94Val
ENST00000696143.1:c.281A>T	ENSP00000512435.1:p.Glu94Val
ENST00000696153.1:c.281A>T	ENSP00000512444.1:p.Glu94Val
ENST00000256474.3:c.281A>T MANE Select	ENSP00000256474.3:p.Glu94Val
ENST00000256474.2:c.281A>T	ENSP00000256474.2:p.Glu94Val
ENST00000345392.2:c.281A>T	ENSP00000344757.2:p.Glu94Val
NM_000551.3:c.281A>T , LRG_322t1:c.281A>T	NP_000542.1:p.Glu94Val
NM_198156.2:c.281A>T	NP_937799.1:p.Glu94Val
XM_011534078.1:c.281A>T	XP_011532380.1:p.Glu94Val
NM_001354723.1:c.281A>T	NP_001341652.1:p.Glu94Val
NM_000551.4:c.281A>T MANE Select	NP_000542.1:p.Glu94Val
NM_001354723.2:c.281A>T	NP_001341652.1:p.Glu94Val
NM_198156.3:c.281A>T	NP_937799.1:p.Glu94Val