Canonical Allele Identifier: CA1345062423

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149838C= , CM000665.2:g.10149838C=	GRCh38
NC_000003.11:g.10191522C= , CM000665.1:g.10191522C=	GRCh37
NC_000003.10:g.10166522C=	NCBI36
NG_008212.3:g.13204C= , LRG_322:g.13204C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*192C=	ENSP00000512434.1:n.*192C=
ENST00000696143.1:c.651C=	ENSP00000512435.1:n.651C=
ENST00000696153.1:c.626C=	ENSP00000512444.1:p.Pro209=
ENST00000256474.3:c.515C= MANE Select	ENSP00000256474.3:p.Pro172=
ENST00000256474.2:c.515C=	ENSP00000256474.2:p.Pro172=
ENST00000345392.2:c.392C=	ENSP00000344757.2:p.Pro131=
ENST00000477538.1:n.651C=
NM_000551.3:c.515C= , LRG_322t1:c.515C=	NP_000542.1:p.Pro172=
NM_198156.2:c.392C=	NP_937799.1:p.Pro131=
NM_001354723.1:c.*69C=	NP_001341652.1:n.*69C=
NM_000551.4:c.515C= MANE Select	NP_000542.1:p.Pro172=
NM_001354723.2:c.*69C=	NP_001341652.1:n.*69C=
NM_198156.3:c.392C=	NP_937799.1:p.Pro131=