Canonical Allele Identifier: CA432423649

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191565A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149881A>G , CM000665.2:g.10149881A>G	GRCh38
NC_000003.11:g.10191565A>G , CM000665.1:g.10191565A>G	GRCh37
NC_000003.10:g.10166565A>G	NCBI36
NG_008212.3:g.13247A>G , LRG_322:g.13247A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*235A>G	ENSP00000512434.1:n.*235A>G
ENST00000696143.1:c.694A>G	ENSP00000512435.1:n.694A>G
ENST00000696153.1:c.669A>G	ENSP00000512444.1:p.Glu223=
ENST00000256474.3:c.558A>G MANE Select	ENSP00000256474.3:p.Glu186=
ENST00000256474.2:c.558A>G	ENSP00000256474.2:p.Glu186=
ENST00000345392.2:c.435A>G	ENSP00000344757.2:p.Glu145=
ENST00000477538.1:n.694A>G
NM_000551.3:c.558A>G , LRG_322t1:c.558A>G	NP_000542.1:p.Glu186=
NM_198156.2:c.435A>G	NP_937799.1:p.Glu145=
NM_001354723.1:c.*112A>G	NP_001341652.1:n.*112A>G
NM_000551.4:c.558A>G MANE Select	NP_000542.1:p.Glu186=
NM_001354723.2:c.*112A>G	NP_001341652.1:n.*112A>G
NM_198156.3:c.435A>G	NP_937799.1:p.Glu145=