Canonical Allele Identifier: CA1345065914

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153382T= , CM000665.2:g.10153382T=	GRCh38
NC_000003.11:g.10195066T= , CM000665.1:g.10195066T=	GRCh37
NC_000003.10:g.10170066T=	NCBI36
NG_008212.3:g.16748T= , LRG_322:g.16748T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3417T=	ENSP00000512444.1:n.*3417T=
ENST00000256474.3:c.*3417T= MANE Select	ENSP00000256474.3:n.*3417T=
NM_000551.3:c.*3417T= , LRG_322t1:c.*3417T=	NP_000542.1:n.*3417T=
NM_198156.2:c.*3417T=	NP_937799.1:n.*3417T=
NM_001354723.1:c.*3613T=	NP_001341652.1:n.*3613T=
NM_000551.4:c.*3417T= MANE Select	NP_000542.1:n.*3417T=
NM_001354723.2:c.*3613T=	NP_001341652.1:n.*3613T=
NM_198156.3:c.*3417T=	NP_937799.1:n.*3417T=