Canonical Allele Identifier: CA1345064240

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151045A= , CM000665.2:g.10151045A=	GRCh38
NC_000003.11:g.10192729A= , CM000665.1:g.10192729A=	GRCh37
NC_000003.10:g.10167729A=	NCBI36
NG_008212.3:g.14411A= , LRG_322:g.14411A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*1399A=	ENSP00000512434.1:n.*1399A=
ENST00000696143.1:c.1858A=	ENSP00000512435.1:n.1858A=
ENST00000696153.1:c.*1080A=	ENSP00000512444.1:n.*1080A=
ENST00000256474.3:c.*1080A= MANE Select	ENSP00000256474.3:n.*1080A=
ENST00000256474.2:c.*1080A=	ENSP00000256474.2:n.*1080A=
ENST00000345392.2:c.*1080A=	ENSP00000344757.2:n.*1080A=
NM_000551.3:c.*1080A= , LRG_322t1:c.*1080A=	NP_000542.1:n.*1080A=
NM_198156.2:c.*1080A=	NP_937799.1:n.*1080A=
NM_001354723.1:c.*1276A=	NP_001341652.1:n.*1276A=
NM_000551.4:c.*1080A= MANE Select	NP_000542.1:n.*1080A=
NM_001354723.2:c.*1276A=	NP_001341652.1:n.*1276A=
NM_198156.3:c.*1080A=	NP_937799.1:n.*1080A=