Canonical Allele Identifier: CA1345062987

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149930C= , CM000665.2:g.10149930C=	GRCh38
NC_000003.11:g.10191614C= , CM000665.1:g.10191614C=	GRCh37
NC_000003.10:g.10166614C=	NCBI36
NG_008212.3:g.13296C= , LRG_322:g.13296C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*284C=	ENSP00000512434.1:n.*284C=
ENST00000696143.1:c.743C=	ENSP00000512435.1:n.743C=
ENST00000696153.1:c.718C=	ENSP00000512444.1:p.Gln240=
ENST00000256474.3:c.607C= MANE Select	ENSP00000256474.3:p.Gln203=
ENST00000256474.2:c.607C=	ENSP00000256474.2:p.Gln203=
ENST00000345392.2:c.484C=	ENSP00000344757.2:p.Gln162=
ENST00000477538.1:n.743C=
NM_000551.3:c.607C= , LRG_322t1:c.607C=	NP_000542.1:p.Gln203=
NM_198156.2:c.484C=	NP_937799.1:p.Gln162=
NM_001354723.1:c.*161C=	NP_001341652.1:n.*161C=
NM_000551.4:c.607C= MANE Select	NP_000542.1:p.Gln203=
NM_001354723.2:c.*161C=	NP_001341652.1:n.*161C=
NM_198156.3:c.484C=	NP_937799.1:p.Gln162=