Canonical Allele Identifier: CA1345067378

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142896G= , CM000665.2:g.10142896G=	GRCh38
NC_000003.11:g.10184580G= , CM000665.1:g.10184580G=	GRCh37
NC_000003.10:g.10159580G=	NCBI36
NG_008212.3:g.6262G= , LRG_322:g.6262G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.474G=	ENSP00000512434.1:p.Val158=
ENST00000696143.1:c.474G=	ENSP00000512435.1:p.Val158=
ENST00000696153.1:c.340+709G=	ENSP00000512444.1:n.340+709G=
ENST00000256474.3:c.340+709G= MANE Select	ENSP00000256474.3:n.340+709G=
ENST00000256474.2:c.340+709G=	ENSP00000256474.2:n.340+709G=
ENST00000345392.2:c.340+709G=	ENSP00000344757.2:n.340+709G=
ENST00000477538.1:n.351G=
NM_000551.3:c.340+709G= , LRG_322t1:c.340+709G=	NP_000542.1:n.340+709G=
NM_198156.2:c.340+709G=	NP_937799.1:n.340+709G=
XM_011534078.1:c.474G=	XP_011532380.1:p.Val158=
NM_001354723.1:c.474G=	NP_001341652.1:p.Val158=
NM_000551.4:c.340+709G= MANE Select	NP_000542.1:n.340+709G=
NM_001354723.2:c.474G=	NP_001341652.1:p.Val158=
NM_198156.3:c.340+709G=	NP_937799.1:n.340+709G=