Canonical Allele Identifier: CA1345062676

Gene: VHL

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*239C=	ENSP00000512434.1:n.*239C=
ENST00000696143.1:c.698C=	ENSP00000512435.1:n.698C=
ENST00000696153.1:c.673C=	ENSP00000512444.1:p.Leu225=
ENST00000256474.3:c.562C= MANE Select	ENSP00000256474.3:p.Leu188=
ENST00000256474.2:c.562C=	ENSP00000256474.2:p.Leu188=
ENST00000345392.2:c.439C=	ENSP00000344757.2:p.Leu147=
ENST00000477538.1:n.698C=
NM_000551.3:c.562C= , LRG_322t1:c.562C=	NP_000542.1:p.Leu188=
NM_198156.2:c.439C=	NP_937799.1:p.Leu147=
NM_001354723.1:c.*116C=	NP_001341652.1:n.*116C=
NM_000551.4:c.562C= MANE Select	NP_000542.1:p.Leu188=
NM_001354723.2:c.*116C=	NP_001341652.1:n.*116C=
NM_198156.3:c.439C=	NP_937799.1:p.Leu147=