Canonical Allele Identifier: CA1345063084

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149950A= , CM000665.2:g.10149950A=	GRCh38
NC_000003.11:g.10191634A= , CM000665.1:g.10191634A=	GRCh37
NC_000003.10:g.10166634A=	NCBI36
NG_008212.3:g.13316A= , LRG_322:g.13316A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*304A=	ENSP00000512434.1:n.*304A=
ENST00000696143.1:c.763A=	ENSP00000512435.1:n.763A=
ENST00000696153.1:c.738A=	ENSP00000512444.1:p.Gln246=
ENST00000256474.3:c.627A= MANE Select	ENSP00000256474.3:p.Gln209=
ENST00000256474.2:c.627A=	ENSP00000256474.2:p.Gln209=
ENST00000345392.2:c.504A=	ENSP00000344757.2:p.Gln168=
ENST00000477538.1:n.763A=
NM_000551.3:c.627A= , LRG_322t1:c.627A=	NP_000542.1:p.Gln209=
NM_198156.2:c.504A=	NP_937799.1:p.Gln168=
NM_001354723.1:c.*181A=	NP_001341652.1:n.*181A=
NM_000551.4:c.627A= MANE Select	NP_000542.1:p.Gln209=
NM_001354723.2:c.*181A=	NP_001341652.1:n.*181A=
NM_198156.3:c.504A=	NP_937799.1:p.Gln168=