Canonical Allele Identifier: CA351753631

Gene: VHL

Linked Data

• ClinVar Variation Id: 496057
• ClinVar RCV Id: RCV001044333
• dbSNP Id: rs864622646
• COSMIC: COSM1651696
• MyVariant Identifiers: chr3:g.10188202C>A (hg19) ; chr3:g.10146518C>A (hg38)
• CIViC: CA351753631
• PubMed: PMID:7728151 ; PMID:8956040 ; PMID:9681856 ; PMID:19949673 ; PMID:20151405 ; PMID:22105711 ; PMID:26206375

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146518C>A , CM000665.2:g.10146518C>A	GRCh38
NC_000003.11:g.10188202C>A , CM000665.1:g.10188202C>A	GRCh37
NC_000003.10:g.10163202C>A	NCBI36
NG_008212.3:g.9884C>A , LRG_322:g.9884C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*22C>A	ENSP00000512434.1:n.*22C>A
ENST00000696143.1:c.600-3269C>A	ENSP00000512435.1:n.600-3269C>A
ENST00000696153.1:c.345C>A	ENSP00000512444.1:p.His115Gln
ENST00000256474.3:c.345C>A MANE Select	ENSP00000256474.3:p.His115Gln
ENST00000256474.2:c.345C>A	ENSP00000256474.2:p.His115Gln
ENST00000345392.2:c.341-3269C>A	ENSP00000344757.2:n.341-3269C>A
ENST00000477538.1:n.481C>A
NM_000551.3:c.345C>A , LRG_322t1:c.345C>A	NP_000542.1:p.His115Gln
NM_198156.2:c.341-3269C>A	NP_937799.1:n.341-3269C>A
XM_011534078.1:c.*22C>A	XP_011532380.1:n.*22C>A
NM_001354723.1:c.*18-3269C>A	NP_001341652.1:n.*18-3269C>A
NM_000551.4:c.345C>A MANE Select	NP_000542.1:p.His115Gln
NM_001354723.2:c.*18-3269C>A	NP_001341652.1:n.*18-3269C>A
NM_198156.3:c.341-3269C>A	NP_937799.1:n.341-3269C>A