Canonical Allele Identifier: CA1345062418

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149837C= , CM000665.2:g.10149837C=	GRCh38
NC_000003.11:g.10191521C= , CM000665.1:g.10191521C=	GRCh37
NC_000003.10:g.10166521C=	NCBI36
NG_008212.3:g.13203C= , LRG_322:g.13203C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*191C=	ENSP00000512434.1:n.*191C=
ENST00000696143.1:c.650C=	ENSP00000512435.1:n.650C=
ENST00000696153.1:c.625C=	ENSP00000512444.1:p.Pro209=
ENST00000256474.3:c.514C= MANE Select	ENSP00000256474.3:p.Pro172=
ENST00000256474.2:c.514C=	ENSP00000256474.2:p.Pro172=
ENST00000345392.2:c.391C=	ENSP00000344757.2:p.Pro131=
ENST00000477538.1:n.650C=
NM_000551.3:c.514C= , LRG_322t1:c.514C=	NP_000542.1:p.Pro172=
NM_198156.2:c.391C=	NP_937799.1:p.Pro131=
NM_001354723.1:c.*68C=	NP_001341652.1:n.*68C=
NM_000551.4:c.514C= MANE Select	NP_000542.1:p.Pro172=
NM_001354723.2:c.*68C=	NP_001341652.1:n.*68C=
NM_198156.3:c.391C=	NP_937799.1:p.Pro131=