Canonical Allele Identifier: CA351753694

Gene: VHL

Linked Data

• ClinVar Variation Id: 428802
• ClinVar RCV Id: RCV000492280 ; RCV003233031
• dbSNP Id: rs5030830
• MyVariant Identifiers: chr3:g.10188210T>G (hg19) ; chr3:g.10146526T>G (hg38)
• PubMed: PMID:8730290 ; PMID:9681856 ; PMID:14636579 ; PMID:17024664
• CIViC: CA351753694

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146526T>G , CM000665.2:g.10146526T>G	GRCh38
NC_000003.11:g.10188210T>G , CM000665.1:g.10188210T>G	GRCh37
NC_000003.10:g.10163210T>G	NCBI36
NG_008212.3:g.9892T>G , LRG_322:g.9892T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*30T>G	ENSP00000512434.1:n.*30T>G
ENST00000696143.1:c.600-3261T>G	ENSP00000512435.1:n.600-3261T>G
ENST00000696153.1:c.353T>G	ENSP00000512444.1:p.Leu118Arg
ENST00000256474.3:c.353T>G MANE Select	ENSP00000256474.3:p.Leu118Arg
ENST00000256474.2:c.353T>G	ENSP00000256474.2:p.Leu118Arg
ENST00000345392.2:c.341-3261T>G	ENSP00000344757.2:n.341-3261T>G
ENST00000477538.1:n.489T>G
NM_000551.3:c.353T>G , LRG_322t1:c.353T>G	NP_000542.1:p.Leu118Arg
NM_198156.2:c.341-3261T>G	NP_937799.1:n.341-3261T>G
XM_011534078.1:c.*30T>G	XP_011532380.1:n.*30T>G
NM_001354723.1:c.*18-3261T>G	NP_001341652.1:n.*18-3261T>G
NM_000551.4:c.353T>G MANE Select	NP_000542.1:p.Leu118Arg
NM_001354723.2:c.*18-3261T>G	NP_001341652.1:n.*18-3261T>G
NM_198156.3:c.341-3261T>G	NP_937799.1:n.341-3261T>G