Canonical Allele Identifier: CA432423612

Gene: VHL

Linked Data

• dbSNP Id: rs779157605
• MyVariant Identifiers: chr3:g.10191559C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149875C>A , CM000665.2:g.10149875C>A	GRCh38
NC_000003.11:g.10191559C>A , CM000665.1:g.10191559C>A	GRCh37
NC_000003.10:g.10166559C>A	NCBI36
NG_008212.3:g.13241C>A , LRG_322:g.13241C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*229C>A	ENSP00000512434.1:n.*229C>A
ENST00000696143.1:c.688C>A	ENSP00000512435.1:n.688C>A
ENST00000696153.1:c.663C>A	ENSP00000512444.1:p.Leu221=
ENST00000256474.3:c.552C>A MANE Select	ENSP00000256474.3:p.Leu184=
ENST00000256474.2:c.552C>A	ENSP00000256474.2:p.Leu184=
ENST00000345392.2:c.429C>A	ENSP00000344757.2:p.Leu143=
ENST00000477538.1:n.688C>A
NM_000551.3:c.552C>A , LRG_322t1:c.552C>A	NP_000542.1:p.Leu184=
NM_198156.2:c.429C>A	NP_937799.1:p.Leu143=
NM_001354723.1:c.*106C>A	NP_001341652.1:n.*106C>A
NM_000551.4:c.552C>A MANE Select	NP_000542.1:p.Leu184=
NM_001354723.2:c.*106C>A	NP_001341652.1:n.*106C>A
NM_198156.3:c.429C>A	NP_937799.1:p.Leu143=