Canonical Allele Identifier: CA1345069175

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10145511C= , CM000665.2:g.10145511C=	GRCh38
NC_000003.11:g.10187195C= , CM000665.1:g.10187195C=	GRCh37
NC_000003.10:g.10162195C=	NCBI36
NG_008212.3:g.8877C= , LRG_322:g.8877C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1003C=	ENSP00000512434.1:n.*18-1003C=
ENST00000696143.1:c.599+2490C=	ENSP00000512435.1:n.599+2490C=
ENST00000696153.1:c.341-1003C=	ENSP00000512444.1:n.341-1003C=
ENST00000256474.3:c.341-1003C= MANE Select	ENSP00000256474.3:n.341-1003C=
ENST00000256474.2:c.341-1003C=	ENSP00000256474.2:n.341-1003C=
ENST00000345392.2:c.340+3324C=	ENSP00000344757.2:n.340+3324C=
ENST00000477538.1:n.477-1003C=
NM_000551.3:c.341-1003C= , LRG_322t1:c.341-1003C=	NP_000542.1:n.341-1003C=
NM_198156.2:c.340+3324C=	NP_937799.1:n.340+3324C=
XM_011534078.1:c.*18-1003C=	XP_011532380.1:n.*18-1003C=
NM_001354723.1:c.*17+2490C=	NP_001341652.1:n.*17+2490C=
NM_000551.4:c.341-1003C= MANE Select	NP_000542.1:n.341-1003C=
NM_001354723.2:c.*17+2490C=	NP_001341652.1:n.*17+2490C=
NM_198156.3:c.340+3324C=	NP_937799.1:n.340+3324C=