Canonical Allele Identifier: CA1345065812

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153251C= , CM000665.2:g.10153251C=	GRCh38
NC_000003.11:g.10194935C= , CM000665.1:g.10194935C=	GRCh37
NC_000003.10:g.10169935C=	NCBI36
NG_008212.3:g.16617C= , LRG_322:g.16617C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*3286C=	ENSP00000512444.1:n.*3286C=
ENST00000256474.3:c.*3286C= MANE Select	ENSP00000256474.3:n.*3286C=
NM_000551.3:c.*3286C= , LRG_322t1:c.*3286C=	NP_000542.1:n.*3286C=
NM_198156.2:c.*3286C=	NP_937799.1:n.*3286C=
NM_001354723.1:c.*3482C=	NP_001341652.1:n.*3482C=
NM_000551.4:c.*3286C= MANE Select	NP_000542.1:n.*3286C=
NM_001354723.2:c.*3482C=	NP_001341652.1:n.*3482C=
NM_198156.3:c.*3286C=	NP_937799.1:n.*3286C=