Canonical Allele Identifier: CA020469

Gene: VHL

Linked Data

• ClinVar Variation Id: 161401
• ClinVar RCV Id: RCV000148921 ; RCV000524495 ; RCV000480432 ; RCV000569566 ; RCV002467588 ; RCV003387773
• dbSNP Id: rs377715747
• ExAC: 3:10191545 A / G
• gnomAD v2: 3-10191545-A-G
• gnomAD v3: 3-10149861-A-G
• gnomAD v4: 3-10149861-A-G
• MyVariant Identifiers: chr3:g.10191545A>G (hg19) ; chr3:g.10149861A>G (hg38)
• PubMed: PMID:7987306 ; PMID:8956040 ; PMID:9681856 ; PMID:17024664 ; PMID:19408298 ; PMID:20151405 ; PMID:21715564 ; PMID:23606570 ; PMID:24969085 ; PMID:25637381 ; PMID:28166483
• PCER: P-CER:CA020469/193300
• CIViC: CA020469

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149861A>G , CM000665.2:g.10149861A>G	GRCh38
NC_000003.11:g.10191545A>G , CM000665.1:g.10191545A>G	GRCh37
NC_000003.10:g.10166545A>G	NCBI36
NG_008212.3:g.13227A>G , LRG_322:g.13227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*215A>G	ENSP00000512434.1:n.*215A>G
ENST00000696143.1:c.674A>G	ENSP00000512435.1:n.674A>G
ENST00000696153.1:c.649A>G	ENSP00000512444.1:p.Ile217Val
ENST00000256474.3:c.538A>G MANE Select	ENSP00000256474.3:p.Ile180Val
ENST00000256474.2:c.538A>G	ENSP00000256474.2:p.Ile180Val
ENST00000345392.2:c.415A>G	ENSP00000344757.2:p.Ile139Val
ENST00000477538.1:n.674A>G
NM_000551.3:c.538A>G , LRG_322t1:c.538A>G	NP_000542.1:p.Ile180Val
NM_198156.2:c.415A>G	NP_937799.1:p.Ile139Val
NM_001354723.1:c.*92A>G	NP_001341652.1:n.*92A>G
NM_000551.4:c.538A>G MANE Select	NP_000542.1:p.Ile180Val
NM_001354723.2:c.*92A>G	NP_001341652.1:n.*92A>G
NM_198156.3:c.415A>G	NP_937799.1:p.Ile139Val