Canonical Allele Identifier: CA1345062669

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149884T= , CM000665.2:g.10149884T=	GRCh38
NC_000003.11:g.10191568T= , CM000665.1:g.10191568T=	GRCh37
NC_000003.10:g.10166568T=	NCBI36
NG_008212.3:g.13250T= , LRG_322:g.13250T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*238T=	ENSP00000512434.1:n.*238T=
ENST00000696143.1:c.697T=	ENSP00000512435.1:n.697T=
ENST00000696153.1:c.672T=	ENSP00000512444.1:p.Asp224=
ENST00000256474.3:c.561T= MANE Select	ENSP00000256474.3:p.Asp187=
ENST00000256474.2:c.561T=	ENSP00000256474.2:p.Asp187=
ENST00000345392.2:c.438T=	ENSP00000344757.2:p.Asp146=
ENST00000477538.1:n.697T=
NM_000551.3:c.561T= , LRG_322t1:c.561T=	NP_000542.1:p.Asp187=
NM_198156.2:c.438T=	NP_937799.1:p.Asp146=
NM_001354723.1:c.*115T=	NP_001341652.1:n.*115T=
NM_000551.4:c.561T= MANE Select	NP_000542.1:p.Asp187=
NM_001354723.2:c.*115T=	NP_001341652.1:n.*115T=
NM_198156.3:c.438T=	NP_937799.1:p.Asp146=