Canonical Allele Identifier: CA020273

Gene: VHL

Linked Data

• ClinVar Variation Id: 2228
• ClinVar RCV Id: RCV000002316
• dbSNP Id: rs104893824
• MyVariant Identifiers: chr3:g.10183865T>A (hg19) ; chr3:g.10142181T>A (hg38)
• CIViC: CA020273
• PubMed: PMID:8863170 ; PMID:10533030 ; PMID:10761708 ; PMID:17526729 ; PMID:19602254
• PCER: P-CER:CA020273/193300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142181T>A , CM000665.2:g.10142181T>A	GRCh38
NC_000003.11:g.10183865T>A , CM000665.1:g.10183865T>A	GRCh37
NC_000003.10:g.10158865T>A	NCBI36
NG_008212.3:g.5547T>A , LRG_322:g.5547T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.334T>A	ENSP00000512434.1:p.Tyr112Asn
ENST00000696143.1:c.334T>A	ENSP00000512435.1:p.Tyr112Asn
ENST00000696153.1:c.334T>A	ENSP00000512444.1:p.Tyr112Asn
ENST00000256474.3:c.334T>A MANE Select	ENSP00000256474.3:p.Tyr112Asn
ENST00000256474.2:c.334T>A	ENSP00000256474.2:p.Tyr112Asn
ENST00000345392.2:c.334T>A	ENSP00000344757.2:p.Tyr112Asn
NM_000551.3:c.334T>A , LRG_322t1:c.334T>A	NP_000542.1:p.Tyr112Asn
NM_198156.2:c.334T>A	NP_937799.1:p.Tyr112Asn
XM_011534078.1:c.334T>A	XP_011532380.1:p.Tyr112Asn
NM_001354723.1:c.334T>A	NP_001341652.1:p.Tyr112Asn
NM_000551.4:c.334T>A MANE Select	NP_000542.1:p.Tyr112Asn
NM_001354723.2:c.334T>A	NP_001341652.1:p.Tyr112Asn
NM_198156.3:c.334T>A	NP_937799.1:p.Tyr112Asn