Canonical Allele Identifier: CA020246

Gene: VHL

Linked Data

• ClinVar Variation Id: 2223
• ClinVar RCV Id: RCV000002309 ; RCV000492094 ; RCV000679029 ; RCV000684783 ; RCV003891425
• dbSNP Id: rs5030809
• gnomAD v2: 3-10183823-T-C
• gnomAD v4: 3-10142139-T-C
• MyVariant Identifiers: chr3:g.10183823T>C (hg19) ; chr3:g.10142139T>C (hg38)
• CIViC: CA020246
• PubMed: PMID:7728151 ; PMID:7759077 ; PMID:7784063 ; PMID:7977367 ; PMID:7987306 ; PMID:8707293 ; PMID:9880225 ; PMID:10458336 ; PMID:10567493 ; PMID:10900011 ; PMID:11483638 ; PMID:11709017 ; PMID:12000816 ; PMID:12351569 ; PMID:12510195 ; PMID:15300849 ; PMID:16314641 ; PMID:17406817 ; PMID:17526729 ; PMID:18544564 ; PMID:19280651 ; PMID:19336503 ; PMID:19602254 ; PMID:21204227 ; PMID:25371412
• PCER: P-CER:CA020246/193300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142139T>C , CM000665.2:g.10142139T>C	GRCh38
NC_000003.11:g.10183823T>C , CM000665.1:g.10183823T>C	GRCh37
NC_000003.10:g.10158823T>C	NCBI36
NG_008212.3:g.5505T>C , LRG_322:g.5505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.292T>C	ENSP00000512434.1:p.Tyr98His
ENST00000696143.1:c.292T>C	ENSP00000512435.1:p.Tyr98His
ENST00000696153.1:c.292T>C	ENSP00000512444.1:p.Tyr98His
ENST00000256474.3:c.292T>C MANE Select	ENSP00000256474.3:p.Tyr98His
ENST00000256474.2:c.292T>C	ENSP00000256474.2:p.Tyr98His
ENST00000345392.2:c.292T>C	ENSP00000344757.2:p.Tyr98His
NM_000551.3:c.292T>C , LRG_322t1:c.292T>C	NP_000542.1:p.Tyr98His
NM_198156.2:c.292T>C	NP_937799.1:p.Tyr98His
XM_011534078.1:c.292T>C	XP_011532380.1:p.Tyr98His
NM_001354723.1:c.292T>C	NP_001341652.1:p.Tyr98His
NM_000551.4:c.292T>C MANE Select	NP_000542.1:p.Tyr98His
NM_001354723.2:c.292T>C	NP_001341652.1:p.Tyr98His
NM_198156.3:c.292T>C	NP_937799.1:p.Tyr98His