Canonical Allele Identifier: CA351753707

Gene: VHL

Linked Data

• ClinVar Variation Id: 496059
• ClinVar RCV Id: RCV000588483 ; RCV000631289 ; RCV002456285
• dbSNP Id: rs1553619948
• COSMIC: COSM1417294
• MyVariant Identifiers: chr3:g.10188212T>C (hg19) ; chr3:g.10146528T>C (hg38)
• CIViC: CA351753707
• PubMed: PMID:10340905 ; PMID:12510195 ; PMID:16142346 ; PMID:19270817 ; PMID:19336503

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146528T>C , CM000665.2:g.10146528T>C	GRCh38
NC_000003.11:g.10188212T>C , CM000665.1:g.10188212T>C	GRCh37
NC_000003.10:g.10163212T>C	NCBI36
NG_008212.3:g.9894T>C , LRG_322:g.9894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*32T>C	ENSP00000512434.1:n.*32T>C
ENST00000696143.1:c.600-3259T>C	ENSP00000512435.1:n.600-3259T>C
ENST00000696153.1:c.355T>C	ENSP00000512444.1:p.Phe119Leu
ENST00000256474.3:c.355T>C MANE Select	ENSP00000256474.3:p.Phe119Leu
ENST00000256474.2:c.355T>C	ENSP00000256474.2:p.Phe119Leu
ENST00000345392.2:c.341-3259T>C	ENSP00000344757.2:n.341-3259T>C
ENST00000477538.1:n.491T>C
NM_000551.3:c.355T>C , LRG_322t1:c.355T>C	NP_000542.1:p.Phe119Leu
NM_198156.2:c.341-3259T>C	NP_937799.1:n.341-3259T>C
XM_011534078.1:c.*32T>C	XP_011532380.1:n.*32T>C
NM_001354723.1:c.*18-3259T>C	NP_001341652.1:n.*18-3259T>C
NM_000551.4:c.355T>C MANE Select	NP_000542.1:p.Phe119Leu
NM_001354723.2:c.*18-3259T>C	NP_001341652.1:n.*18-3259T>C
NM_198156.3:c.341-3259T>C	NP_937799.1:n.341-3259T>C