Canonical Allele Identifier: CA357083

Gene: VHL

Linked Data

• ClinVar Variation Id: 223200
• ClinVar RCV Id: RCV000208830 ; RCV000801501 ; RCV000679035 ; RCV004020567
• dbSNP Id: rs5030832
• gnomAD v4: 3-10146535-A-G
• COSMIC: COSM18009
• MyVariant Identifiers: chr3:g.10188219A>G (hg19) ; chr3:g.10146535A>G (hg38)
• CIViC: CA357083
• PCER: P-CER:CA357083/193300
• PubMed: PMID:7977367 ; PMID:8956040 ; PMID:11409863 ; PMID:11865071 ; PMID:14722919 ; PMID:15300849 ; PMID:16572651 ; PMID:19030229

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146535A>G , CM000665.2:g.10146535A>G	GRCh38
NC_000003.11:g.10188219A>G , CM000665.1:g.10188219A>G	GRCh37
NC_000003.10:g.10163219A>G	NCBI36
NG_008212.3:g.9901A>G , LRG_322:g.9901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*39A>G	ENSP00000512434.1:n.*39A>G
ENST00000696143.1:c.600-3252A>G	ENSP00000512435.1:n.600-3252A>G
ENST00000696153.1:c.362A>G	ENSP00000512444.1:p.Asp121Gly
ENST00000256474.3:c.362A>G MANE Select	ENSP00000256474.3:p.Asp121Gly
ENST00000256474.2:c.362A>G	ENSP00000256474.2:p.Asp121Gly
ENST00000345392.2:c.341-3252A>G	ENSP00000344757.2:n.341-3252A>G
ENST00000477538.1:n.498A>G
NM_000551.3:c.362A>G , LRG_322t1:c.362A>G	NP_000542.1:p.Asp121Gly
NM_198156.2:c.341-3252A>G	NP_937799.1:n.341-3252A>G
XM_011534078.1:c.*39A>G	XP_011532380.1:n.*39A>G
NM_001354723.1:c.*18-3252A>G	NP_001341652.1:n.*18-3252A>G
NM_000551.4:c.362A>G MANE Select	NP_000542.1:p.Asp121Gly
NM_001354723.2:c.*18-3252A>G	NP_001341652.1:n.*18-3252A>G
NM_198156.3:c.341-3252A>G	NP_937799.1:n.341-3252A>G