Canonical Allele Identifier: CA1139655766

Gene: VHL

Linked Data

• ClinVar Variation Id: 935385
• ClinVar RCV Id: RCV001203962
• dbSNP Id: rs1696365502

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149929dup , CM000665.2:g.10149929dup	GRCh38
NC_000003.11:g.10191613dup , CM000665.1:g.10191613dup	GRCh37
NC_000003.10:g.10166613dup	NCBI36
NG_008212.3:g.13295dup , LRG_322:g.13295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*283dup	ENSP00000512434.1:n.*283dup
ENST00000696143.1:c.742dup	ENSP00000512435.1:n.742dup
ENST00000696153.1:c.717dup	ENSP00000512444.1:p.Gln240ThrfsTer?
ENST00000256474.3:c.606dup MANE Select	ENSP00000256474.3:p.Gln203ThrfsTer?
ENST00000256474.2:c.606dup	ENSP00000256474.2:p.Gln203ThrfsTer?
ENST00000345392.2:c.483dup	ENSP00000344757.2:p.Gln162ThrfsTer?
ENST00000477538.1:n.742dup
NM_000551.3:c.606dup , LRG_322t1:c.606dup	NP_000542.1:p.Gln203ThrfsTer?
NM_198156.2:c.483dup	NP_937799.1:p.Gln162ThrfsTer?
NM_001354723.1:c.*160dup	NP_001341652.1:n.*160dup
NM_000551.4:c.606dup MANE Select	NP_000542.1:p.Gln203ThrfsTer?
NM_001354723.2:c.*160dup	NP_001341652.1:n.*160dup
NM_198156.3:c.483dup	NP_937799.1:p.Gln162ThrfsTer?