Canonical Allele Identifier: CA020384

Gene: VHL

Linked Data

• ClinVar Variation Id: 36904
• ClinVar RCV Id: RCV000030588
• dbSNP Id: rs193922612
• gnomAD v2: 3-10191347-CT-C
• gnomAD v3: 3-10149663-CT-C
• gnomAD v4: 3-10149663-CT-C
• MyVariant Identifiers: chr3:g.10191354del (hg19) ; chr3:g.10191348del (hg19) ; chr3:g.10149670del (hg38) ; chr3:g.10149664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149670del , CM000665.2:g.10149670del	GRCh38
NC_000003.11:g.10191354del , CM000665.1:g.10191354del	GRCh37
NC_000003.10:g.10166354del	NCBI36
NG_008212.3:g.13036del , LRG_322:g.13036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-117del	ENSP00000512434.1:n.*141-117del
ENST00000696143.1:c.600-117del	ENSP00000512435.1:n.600-117del
ENST00000696153.1:c.575-117del	ENSP00000512444.1:n.575-117del
ENST00000256474.3:c.464-117del MANE Select	ENSP00000256474.3:n.464-117del
ENST00000256474.2:c.464-117del	ENSP00000256474.2:n.464-117del
ENST00000345392.2:c.341-117del	ENSP00000344757.2:n.341-117del
ENST00000477538.1:n.600-117del
NM_000551.3:c.464-117del , LRG_322t1:c.464-117del	NP_000542.1:n.464-117del
NM_198156.2:c.341-117del	NP_937799.1:n.341-117del
NM_001354723.1:c.*18-117del	NP_001341652.1:n.*18-117del
NM_000551.4:c.464-117del MANE Select	NP_000542.1:n.464-117del
NM_001354723.2:c.*18-117del	NP_001341652.1:n.*18-117del
NM_198156.3:c.341-117del	NP_937799.1:n.341-117del