Canonical Allele Identifier: CA351753726

Gene: VHL

Linked Data

• ClinVar Variation Id: 625240
• ClinVar RCV Id: RCV000767262 ; RCV002458373 ; RCV000821822
• dbSNP Id: rs1559428077
• COSMIC: COSM18022
• MyVariant Identifiers: chr3:g.10188214C>G (hg19) ; chr3:g.10146530C>G (hg38)
• PCER: P-CER:CA351753726/193300
• CIViC: CA351753726

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146530C>G , CM000665.2:g.10146530C>G	GRCh38
NC_000003.11:g.10188214C>G , CM000665.1:g.10188214C>G	GRCh37
NC_000003.10:g.10163214C>G	NCBI36
NG_008212.3:g.9896C>G , LRG_322:g.9896C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*34C>G	ENSP00000512434.1:n.*34C>G
ENST00000696143.1:c.600-3257C>G	ENSP00000512435.1:n.600-3257C>G
ENST00000696153.1:c.357C>G	ENSP00000512444.1:p.Phe119Leu
ENST00000256474.3:c.357C>G MANE Select	ENSP00000256474.3:p.Phe119Leu
ENST00000256474.2:c.357C>G	ENSP00000256474.2:p.Phe119Leu
ENST00000345392.2:c.341-3257C>G	ENSP00000344757.2:n.341-3257C>G
ENST00000477538.1:n.493C>G
NM_000551.3:c.357C>G , LRG_322t1:c.357C>G	NP_000542.1:p.Phe119Leu
NM_198156.2:c.341-3257C>G	NP_937799.1:n.341-3257C>G
XM_011534078.1:c.*34C>G	XP_011532380.1:n.*34C>G
NM_001354723.1:c.*18-3257C>G	NP_001341652.1:n.*18-3257C>G
NM_000551.4:c.357C>G MANE Select	NP_000542.1:p.Phe119Leu
NM_001354723.2:c.*18-3257C>G	NP_001341652.1:n.*18-3257C>G
NM_198156.3:c.341-3257C>G	NP_937799.1:n.341-3257C>G