Canonical Allele Identifier: CA020429

Gene: VHL

Identifiers and link-outs to other resources

• ClinVar Variation Id: 2238
• ClinVar RCV Id: RCV000002326 ; RCV001023261
• dbSNP Id: rs267607170
• COSMIC: COSM14283
• MyVariant Identifiers: chr3:g.10191498A>G (hg19) ; chr3:g.10149814A>G (hg38)
• CIViC: CA020429
• PubMed: PMID:7728151 ; PMID:8825918 ; PMID:8956040 ; PMID:10088816 ; PMID:10587522 ; PMID:11058902 ; PMID:12538644 ; PMID:17024664 ; PMID:19408298 ; PMID:20583150 ; PMID:23660872 ; PMID:26503325
• PCER: P-CER:CA020429/193300

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149814A>G , CM000665.2:g.10149814A>G	GRCh38
NC_000003.11:g.10191498A>G , CM000665.1:g.10191498A>G	GRCh37
NC_000003.10:g.10166498A>G	NCBI36
NG_008212.3:g.13180A>G , LRG_322:g.13180A>G

Transcript Alleles

HGVS	Amino-acid change
NM_000551.3:c.491A>G , LRG_322t1:c.491A>G	NP_000542.1:p.Gln164Arg
NM_198156.2:c.368A>G VV	NP_937799.1:p.Gln123Arg
NM_001354723.1:c.*45A>G VV	NP_001341652.1:p.=
NM_000551.4:c.491A>G VV MANE Preferred	NP_000542.1:p.Gln164Arg
NM_001354723.2:c.*45A>G VV	NP_001341652.1:p.=
NM_198156.3:c.368A>G VV	NP_937799.1:p.Gln123Arg
ENST00000256474.2:c.491A>G	ENSP00000256474.2:p.Gln164Arg
ENST00000345392.2:c.368A>G	ENSP00000344757.2:p.Gln123Arg
ENST00000477538.1:n.627A>G