Canonical Allele Identifier: CA1345062883

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149914C= , CM000665.2:g.10149914C=	GRCh38
NC_000003.11:g.10191598C= , CM000665.1:g.10191598C=	GRCh37
NC_000003.10:g.10166598C=	NCBI36
NG_008212.3:g.13280C= , LRG_322:g.13280C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*268C=	ENSP00000512434.1:n.*268C=
ENST00000696143.1:c.727C=	ENSP00000512435.1:n.727C=
ENST00000696153.1:c.702C=	ENSP00000512444.1:p.Asp234=
ENST00000256474.3:c.591C= MANE Select	ENSP00000256474.3:p.Asp197=
ENST00000256474.2:c.591C=	ENSP00000256474.2:p.Asp197=
ENST00000345392.2:c.468C=	ENSP00000344757.2:p.Asp156=
ENST00000477538.1:n.727C=
NM_000551.3:c.591C= , LRG_322t1:c.591C=	NP_000542.1:p.Asp197=
NM_198156.2:c.468C=	NP_937799.1:p.Asp156=
NM_001354723.1:c.*145C=	NP_001341652.1:n.*145C=
NM_000551.4:c.591C= MANE Select	NP_000542.1:p.Asp197=
NM_001354723.2:c.*145C=	NP_001341652.1:n.*145C=
NM_198156.3:c.468C=	NP_937799.1:p.Asp156=