Canonical Allele Identifier: CA351756397

Gene: VHL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149885C>A , CM000665.2:g.10149885C>A	GRCh38
NC_000003.11:g.10191569C>A , CM000665.1:g.10191569C>A	GRCh37
NC_000003.10:g.10166569C>A	NCBI36
NG_008212.3:g.13251C>A , LRG_322:g.13251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*239C>A	ENSP00000512434.1:n.*239C>A
ENST00000696143.1:c.698C>A	ENSP00000512435.1:n.698C>A
ENST00000696153.1:c.673C>A	ENSP00000512444.1:p.Leu225Met
ENST00000256474.3:c.562C>A MANE Select	ENSP00000256474.3:p.Leu188Met
ENST00000256474.2:c.562C>A	ENSP00000256474.2:p.Leu188Met
ENST00000345392.2:c.439C>A	ENSP00000344757.2:p.Leu147Met
ENST00000477538.1:n.698C>A
NM_000551.3:c.562C>A , LRG_322t1:c.562C>A	NP_000542.1:p.Leu188Met
NM_198156.2:c.439C>A	NP_937799.1:p.Leu147Met
NM_001354723.1:c.*116C>A	NP_001341652.1:n.*116C>A
NM_000551.4:c.562C>A MANE Select	NP_000542.1:p.Leu188Met
NM_001354723.2:c.*116C>A	NP_001341652.1:n.*116C>A
NM_198156.3:c.439C>A	NP_937799.1:p.Leu147Met