Canonical Allele Identifier: CA1345063479

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150284A= , CM000665.2:g.10150284A=	GRCh38
NC_000003.11:g.10191968A= , CM000665.1:g.10191968A=	GRCh37
NC_000003.10:g.10166968A=	NCBI36
NG_008212.3:g.13650A= , LRG_322:g.13650A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*638A=	ENSP00000512434.1:n.*638A=
ENST00000696143.1:c.1097A=	ENSP00000512435.1:n.1097A=
ENST00000696153.1:c.*319A=	ENSP00000512444.1:n.*319A=
ENST00000256474.3:c.*319A= MANE Select	ENSP00000256474.3:n.*319A=
ENST00000256474.2:c.*319A=	ENSP00000256474.2:n.*319A=
ENST00000345392.2:c.*319A=	ENSP00000344757.2:n.*319A=
NM_000551.3:c.*319A= , LRG_322t1:c.*319A=	NP_000542.1:n.*319A=
NM_198156.2:c.*319A=	NP_937799.1:n.*319A=
NM_001354723.1:c.*515A=	NP_001341652.1:n.*515A=
NM_000551.4:c.*319A= MANE Select	NP_000542.1:n.*319A=
NM_001354723.2:c.*515A=	NP_001341652.1:n.*515A=
NM_198156.3:c.*319A=	NP_937799.1:n.*319A=