Canonical Allele Identifier: CA1345063023

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149936C= , CM000665.2:g.10149936C=	GRCh38
NC_000003.11:g.10191620C= , CM000665.1:g.10191620C=	GRCh37
NC_000003.10:g.10166620C=	NCBI36
NG_008212.3:g.13302C= , LRG_322:g.13302C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*290C=	ENSP00000512434.1:n.*290C=
ENST00000696143.1:c.749C=	ENSP00000512435.1:n.749C=
ENST00000696153.1:c.724C=	ENSP00000512444.1:p.Arg242=
ENST00000256474.3:c.613C= MANE Select	ENSP00000256474.3:p.Arg205=
ENST00000256474.2:c.613C=	ENSP00000256474.2:p.Arg205=
ENST00000345392.2:c.490C=	ENSP00000344757.2:p.Arg164=
ENST00000477538.1:n.749C=
NM_000551.3:c.613C= , LRG_322t1:c.613C=	NP_000542.1:p.Arg205=
NM_198156.2:c.490C=	NP_937799.1:p.Arg164=
NM_001354723.1:c.*167C=	NP_001341652.1:n.*167C=
NM_000551.4:c.613C= MANE Select	NP_000542.1:p.Arg205=
NM_001354723.2:c.*167C=	NP_001341652.1:n.*167C=
NM_198156.3:c.490C=	NP_937799.1:p.Arg164=