Canonical Allele Identifier: CA020089

Gene: VHL

Linked Data

• ClinVar Variation Id: 2226
• ClinVar RCV Id: RCV000002314 ; RCV000132356 ; RCV000208872 ; RCV000475973 ; RCV000679019
• dbSNP Id: rs104893826
• COSMIC: COSM6444480
• MyVariant Identifiers: chr3:g.10183722G>C (hg19) ; chr3:g.10142038G>C (hg38)
• CIViC: CA020089
• ERepo: CA020089/MONDO:0008667/078
• PubMed: PMID:9663592 ; PMID:17661816 ; PMID:19808854
• PCER: P-CER:CA020089/193300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142038G>C , CM000665.2:g.10142038G>C	GRCh38
NC_000003.11:g.10183722G>C , CM000665.1:g.10183722G>C	GRCh37
NC_000003.10:g.10158722G>C	NCBI36
NG_008212.3:g.5404G>C , LRG_322:g.5404G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.191G>C	ENSP00000512434.1:p.Arg64Pro
ENST00000696143.1:c.191G>C	ENSP00000512435.1:p.Arg64Pro
ENST00000696153.1:c.191G>C	ENSP00000512444.1:p.Arg64Pro
ENST00000256474.3:c.191G>C MANE Select	ENSP00000256474.3:p.Arg64Pro
ENST00000256474.2:c.191G>C	ENSP00000256474.2:p.Arg64Pro
ENST00000345392.2:c.191G>C	ENSP00000344757.2:p.Arg64Pro
NM_000551.3:c.191G>C , LRG_322t1:c.191G>C	NP_000542.1:p.Arg64Pro
NM_198156.2:c.191G>C	NP_937799.1:p.Arg64Pro
XM_011534078.1:c.191G>C	XP_011532380.1:p.Arg64Pro
NM_001354723.1:c.191G>C	NP_001341652.1:p.Arg64Pro
NM_000551.4:c.191G>C MANE Select	NP_000542.1:p.Arg64Pro
NM_001354723.2:c.191G>C	NP_001341652.1:p.Arg64Pro
NM_198156.3:c.191G>C	NP_937799.1:p.Arg64Pro