Canonical Allele Identifier: CA1345062452

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149845T= , CM000665.2:g.10149845T=	GRCh38
NC_000003.11:g.10191529T= , CM000665.1:g.10191529T=	GRCh37
NC_000003.10:g.10166529T=	NCBI36
NG_008212.3:g.13211T= , LRG_322:g.13211T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*199T=	ENSP00000512434.1:n.*199T=
ENST00000696143.1:c.658T=	ENSP00000512435.1:n.658T=
ENST00000696153.1:c.633T=	ENSP00000512444.1:p.Asn211=
ENST00000256474.3:c.522T= MANE Select	ENSP00000256474.3:p.Asn174=
ENST00000256474.2:c.522T=	ENSP00000256474.2:p.Asn174=
ENST00000345392.2:c.399T=	ENSP00000344757.2:p.Asn133=
ENST00000477538.1:n.658T=
NM_000551.3:c.522T= , LRG_322t1:c.522T=	NP_000542.1:p.Asn174=
NM_198156.2:c.399T=	NP_937799.1:p.Asn133=
NM_001354723.1:c.*76T=	NP_001341652.1:n.*76T=
NM_000551.4:c.522T= MANE Select	NP_000542.1:p.Asn174=
NM_001354723.2:c.*76T=	NP_001341652.1:n.*76T=
NM_198156.3:c.399T=	NP_937799.1:p.Asn133=