Canonical Allele Identifier: CA1345058777

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146603G= , CM000665.2:g.10146603G=	GRCh38
NC_000003.11:g.10188287G= , CM000665.1:g.10188287G=	GRCh37
NC_000003.10:g.10163287G=	NCBI36
NG_008212.3:g.9969G= , LRG_322:g.9969G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*107G=	ENSP00000512434.1:n.*107G=
ENST00000696143.1:c.600-3184G=	ENSP00000512435.1:n.600-3184G=
ENST00000696153.1:c.430G=	ENSP00000512444.1:p.Gly144=
ENST00000256474.3:c.430G= MANE Select	ENSP00000256474.3:p.Gly144=
ENST00000256474.2:c.430G=	ENSP00000256474.2:p.Gly144=
ENST00000345392.2:c.341-3184G=	ENSP00000344757.2:n.341-3184G=
ENST00000477538.1:n.566G=
NM_000551.3:c.430G= , LRG_322t1:c.430G=	NP_000542.1:p.Gly144=
NM_198156.2:c.341-3184G=	NP_937799.1:n.341-3184G=
NM_001354723.1:c.*18-3184G=	NP_001341652.1:n.*18-3184G=
NM_000551.4:c.430G= MANE Select	NP_000542.1:p.Gly144=
NM_001354723.2:c.*18-3184G=	NP_001341652.1:n.*18-3184G=
NM_198156.3:c.341-3184G=	NP_937799.1:n.341-3184G=