Canonical Allele Identifier: CA020277

Gene: VHL

Linked Data

• ClinVar Variation Id: 2222
• ClinVar RCV Id: RCV000002308 ; RCV000698407 ; RCV002321468 ; RCV003407257
• dbSNP Id: rs104893824
• MyVariant Identifiers: chr3:g.10183865T>C (hg19) ; chr3:g.10142181T>C (hg38)
• CIViC: CA020277
• PubMed: PMID:8239848 ; PMID:8956040 ; PMID:13985160
• PCER: P-CER:CA020277/193300

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.334T>C	ENSP00000512434.1:p.Tyr112His
ENST00000696143.1:c.334T>C	ENSP00000512435.1:p.Tyr112His
ENST00000696153.1:c.334T>C	ENSP00000512444.1:p.Tyr112His
ENST00000256474.3:c.334T>C MANE Select	ENSP00000256474.3:p.Tyr112His
ENST00000256474.2:c.334T>C	ENSP00000256474.2:p.Tyr112His
ENST00000345392.2:c.334T>C	ENSP00000344757.2:p.Tyr112His
NM_000551.3:c.334T>C , LRG_322t1:c.334T>C	NP_000542.1:p.Tyr112His
NM_198156.2:c.334T>C	NP_937799.1:p.Tyr112His
XM_011534078.1:c.334T>C	XP_011532380.1:p.Tyr112His
NM_001354723.1:c.334T>C	NP_001341652.1:p.Tyr112His
NM_000551.4:c.334T>C MANE Select	NP_000542.1:p.Tyr112His
NM_001354723.2:c.334T>C	NP_001341652.1:p.Tyr112His
NM_198156.3:c.334T>C	NP_937799.1:p.Tyr112His