Canonical Allele Identifier: CA351750671

Gene: VHL

Linked Data

• ClinVar Variation Id: 456577
• ClinVar RCV Id: RCV000587190 ; RCV000679026 ; RCV000558602 ; RCV002431533 ; RCV003459186
• dbSNP Id: rs1553619431
• COSMIC: COSM17881
• MyVariant Identifiers: chr3:g.10183793T>A (hg19) ; chr3:g.10142109T>A (hg38)
• CIViC: CA351750671
• PubMed: PMID:7728151 ; PMID:8956040 ; PMID:9681856 ; PMID:9829911 ; PMID:10567493 ; PMID:11114638 ; PMID:11309459 ; PMID:11921283 ; PMID:16488999 ; PMID:17024664 ; PMID:19996202 ; PMID:22156657
• PCER: P-CER:CA351750671/193300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142109T>A , CM000665.2:g.10142109T>A	GRCh38
NC_000003.11:g.10183793T>A , CM000665.1:g.10183793T>A	GRCh37
NC_000003.10:g.10158793T>A	NCBI36
NG_008212.3:g.5475T>A , LRG_322:g.5475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.262T>A	ENSP00000512434.1:p.Trp88Arg
ENST00000696143.1:c.262T>A	ENSP00000512435.1:p.Trp88Arg
ENST00000696153.1:c.262T>A	ENSP00000512444.1:p.Trp88Arg
ENST00000256474.3:c.262T>A MANE Select	ENSP00000256474.3:p.Trp88Arg
ENST00000256474.2:c.262T>A	ENSP00000256474.2:p.Trp88Arg
ENST00000345392.2:c.262T>A	ENSP00000344757.2:p.Trp88Arg
NM_000551.3:c.262T>A , LRG_322t1:c.262T>A	NP_000542.1:p.Trp88Arg
NM_198156.2:c.262T>A	NP_937799.1:p.Trp88Arg
XM_011534078.1:c.262T>A	XP_011532380.1:p.Trp88Arg
NM_001354723.1:c.262T>A	NP_001341652.1:p.Trp88Arg
NM_000551.4:c.262T>A MANE Select	NP_000542.1:p.Trp88Arg
NM_001354723.2:c.262T>A	NP_001341652.1:p.Trp88Arg
NM_198156.3:c.262T>A	NP_937799.1:p.Trp88Arg