Canonical Allele Identifier: CA432423787

Gene: VHL

Linked Data

• dbSNP Id: rs878854128
• MyVariant Identifiers: chr3:g.10191592G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149908G>A , CM000665.2:g.10149908G>A	GRCh38
NC_000003.11:g.10191592G>A , CM000665.1:g.10191592G>A	GRCh37
NC_000003.10:g.10166592G>A	NCBI36
NG_008212.3:g.13274G>A , LRG_322:g.13274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*262G>A	ENSP00000512434.1:n.*262G>A
ENST00000696143.1:c.721G>A	ENSP00000512435.1:n.721G>A
ENST00000696153.1:c.696G>A	ENSP00000512444.1:p.Gln232=
ENST00000256474.3:c.585G>A MANE Select	ENSP00000256474.3:p.Gln195=
ENST00000256474.2:c.585G>A	ENSP00000256474.2:p.Gln195=
ENST00000345392.2:c.462G>A	ENSP00000344757.2:p.Gln154=
ENST00000477538.1:n.721G>A
NM_000551.3:c.585G>A , LRG_322t1:c.585G>A	NP_000542.1:p.Gln195=
NM_198156.2:c.462G>A	NP_937799.1:p.Gln154=
NM_001354723.1:c.*139G>A	NP_001341652.1:n.*139G>A
NM_000551.4:c.585G>A MANE Select	NP_000542.1:p.Gln195=
NM_001354723.2:c.*139G>A	NP_001341652.1:n.*139G>A
NM_198156.3:c.462G>A	NP_937799.1:p.Gln154=