Canonical Allele Identifier: CA1345064482

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151336A= , CM000665.2:g.10151336A=	GRCh38
NC_000003.11:g.10193020A= , CM000665.1:g.10193020A=	GRCh37
NC_000003.10:g.10168020A=	NCBI36
NG_008212.3:g.14702A= , LRG_322:g.14702A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*1690A=	ENSP00000512434.1:n.*1690A=
ENST00000696143.1:c.2149A=	ENSP00000512435.1:n.2149A=
ENST00000696153.1:c.*1371A=	ENSP00000512444.1:n.*1371A=
ENST00000256474.3:c.*1371A= MANE Select	ENSP00000256474.3:n.*1371A=
ENST00000256474.2:c.*1371A=	ENSP00000256474.2:n.*1371A=
ENST00000345392.2:c.*1371A=	ENSP00000344757.2:n.*1371A=
NM_000551.3:c.*1371A= , LRG_322t1:c.*1371A=	NP_000542.1:n.*1371A=
NM_198156.2:c.*1371A=	NP_937799.1:n.*1371A=
NM_001354723.1:c.*1567A=	NP_001341652.1:n.*1567A=
NM_000551.4:c.*1371A= MANE Select	NP_000542.1:n.*1371A=
NM_001354723.2:c.*1567A=	NP_001341652.1:n.*1567A=
NM_198156.3:c.*1371A=	NP_937799.1:n.*1371A=