Canonical Allele Identifier: CA1345065810

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153244C= , CM000665.2:g.10153244C=	GRCh38
NC_000003.11:g.10194928C= , CM000665.1:g.10194928C=	GRCh37
NC_000003.10:g.10169928C=	NCBI36
NG_008212.3:g.16610C= , LRG_322:g.16610C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*3279C=	ENSP00000512444.1:n.*3279C=
ENST00000256474.3:c.*3279C= MANE Select	ENSP00000256474.3:n.*3279C=
NM_000551.3:c.*3279C= , LRG_322t1:c.*3279C=	NP_000542.1:n.*3279C=
NM_198156.2:c.*3279C=	NP_937799.1:n.*3279C=
NM_001354723.1:c.*3475C=	NP_001341652.1:n.*3475C=
NM_000551.4:c.*3279C= MANE Select	NP_000542.1:n.*3279C=
NM_001354723.2:c.*3475C=	NP_001341652.1:n.*3475C=
NM_198156.3:c.*3279C=	NP_937799.1:n.*3279C=