Canonical Allele Identifier: CA1345065842

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153283A= , CM000665.2:g.10153283A=	GRCh38
NC_000003.11:g.10194967A= , CM000665.1:g.10194967A=	GRCh37
NC_000003.10:g.10169967A=	NCBI36
NG_008212.3:g.16649A= , LRG_322:g.16649A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*3318A=	ENSP00000512444.1:n.*3318A=
ENST00000256474.3:c.*3318A= MANE Select	ENSP00000256474.3:n.*3318A=
NM_000551.3:c.*3318A= , LRG_322t1:c.*3318A=	NP_000542.1:n.*3318A=
NM_198156.2:c.*3318A=	NP_937799.1:n.*3318A=
NM_001354723.1:c.*3514A=	NP_001341652.1:n.*3514A=
NM_000551.4:c.*3318A= MANE Select	NP_000542.1:n.*3318A=
NM_001354723.2:c.*3514A=	NP_001341652.1:n.*3514A=
NM_198156.3:c.*3318A=	NP_937799.1:n.*3318A=