Canonical Allele Identifier: CA1345063283

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150069C= , CM000665.2:g.10150069C=	GRCh38
NC_000003.11:g.10191753C= , CM000665.1:g.10191753C=	GRCh37
NC_000003.10:g.10166753C=	NCBI36
NG_008212.3:g.13435C= , LRG_322:g.13435C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*423C=	ENSP00000512434.1:n.*423C=
ENST00000696143.1:c.882C=	ENSP00000512435.1:n.882C=
ENST00000696153.1:c.*104C=	ENSP00000512444.1:n.*104C=
ENST00000256474.3:c.*104C= MANE Select	ENSP00000256474.3:n.*104C=
ENST00000256474.2:c.*104C=	ENSP00000256474.2:n.*104C=
ENST00000345392.2:c.*104C=	ENSP00000344757.2:n.*104C=
ENST00000477538.1:n.882C=
NM_000551.3:c.*104C= , LRG_322t1:c.*104C=	NP_000542.1:n.*104C=
NM_198156.2:c.*104C=	NP_937799.1:n.*104C=
NM_001354723.1:c.*300C=	NP_001341652.1:n.*300C=
NM_000551.4:c.*104C= MANE Select	NP_000542.1:n.*104C=
NM_001354723.2:c.*300C=	NP_001341652.1:n.*300C=
NM_198156.3:c.*104C=	NP_937799.1:n.*104C=