Canonical Allele Identifier: CA351753958

Gene: VHL

Linked Data

• ClinVar Variation Id: 496063
• ClinVar RCV Id: RCV000589183 ; RCV002377215
• dbSNP Id: rs1347416980
• MyVariant Identifiers: chr3:g.10188252A>C (hg19) ; chr3:g.10146568A>C (hg38)
• CIViC: CA351753958
• PubMed: PMID:10567493 ; PMID:12202531 ; PMID:15300849 ; PMID:17024664 ; PMID:19408298

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146568A>C , CM000665.2:g.10146568A>C	GRCh38
NC_000003.11:g.10188252A>C , CM000665.1:g.10188252A>C	GRCh37
NC_000003.10:g.10163252A>C	NCBI36
NG_008212.3:g.9934A>C , LRG_322:g.9934A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*72A>C	ENSP00000512434.1:n.*72A>C
ENST00000696143.1:c.600-3219A>C	ENSP00000512435.1:n.600-3219A>C
ENST00000696153.1:c.395A>C	ENSP00000512444.1:p.Gln132Pro
ENST00000256474.3:c.395A>C MANE Select	ENSP00000256474.3:p.Gln132Pro
ENST00000256474.2:c.395A>C	ENSP00000256474.2:p.Gln132Pro
ENST00000345392.2:c.341-3219A>C	ENSP00000344757.2:n.341-3219A>C
ENST00000477538.1:n.531A>C
NM_000551.3:c.395A>C , LRG_322t1:c.395A>C	NP_000542.1:p.Gln132Pro
NM_198156.2:c.341-3219A>C	NP_937799.1:n.341-3219A>C
XM_011534078.1:c.*72A>C	XP_011532380.1:n.*72A>C
NM_001354723.1:c.*18-3219A>C	NP_001341652.1:n.*18-3219A>C
NM_000551.4:c.395A>C MANE Select	NP_000542.1:p.Gln132Pro
NM_001354723.2:c.*18-3219A>C	NP_001341652.1:n.*18-3219A>C
NM_198156.3:c.341-3219A>C	NP_937799.1:n.341-3219A>C