Canonical Allele Identifier: CA1345062538

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149861A= , CM000665.2:g.10149861A=	GRCh38
NC_000003.11:g.10191545A= , CM000665.1:g.10191545A=	GRCh37
NC_000003.10:g.10166545A=	NCBI36
NG_008212.3:g.13227A= , LRG_322:g.13227A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*215A=	ENSP00000512434.1:n.*215A=
ENST00000696143.1:c.674A=	ENSP00000512435.1:n.674A=
ENST00000696153.1:c.649A=	ENSP00000512444.1:p.Ile217=
ENST00000256474.3:c.538A= MANE Select	ENSP00000256474.3:p.Ile180=
ENST00000256474.2:c.538A=	ENSP00000256474.2:p.Ile180=
ENST00000345392.2:c.415A=	ENSP00000344757.2:p.Ile139=
ENST00000477538.1:n.674A=
NM_000551.3:c.538A= , LRG_322t1:c.538A=	NP_000542.1:p.Ile180=
NM_198156.2:c.415A=	NP_937799.1:p.Ile139=
NM_001354723.1:c.*92A=	NP_001341652.1:n.*92A=
NM_000551.4:c.538A= MANE Select	NP_000542.1:p.Ile180=
NM_001354723.2:c.*92A=	NP_001341652.1:n.*92A=
NM_198156.3:c.415A=	NP_937799.1:p.Ile139=