Canonical Allele Identifier: CA1345062281

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149812C= , CM000665.2:g.10149812C=	GRCh38
NC_000003.11:g.10191496C= , CM000665.1:g.10191496C=	GRCh37
NC_000003.10:g.10166496C=	NCBI36
NG_008212.3:g.13178C= , LRG_322:g.13178C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*166C=	ENSP00000512434.1:n.*166C=
ENST00000696143.1:c.625C=	ENSP00000512435.1:n.625C=
ENST00000696153.1:c.600C=	ENSP00000512444.1:p.Leu200=
ENST00000256474.3:c.489C= MANE Select	ENSP00000256474.3:p.Leu163=
ENST00000256474.2:c.489C=	ENSP00000256474.2:p.Leu163=
ENST00000345392.2:c.366C=	ENSP00000344757.2:p.Leu122=
ENST00000477538.1:n.625C=
NM_000551.3:c.489C= , LRG_322t1:c.489C=	NP_000542.1:p.Leu163=
NM_198156.2:c.366C=	NP_937799.1:p.Leu122=
NM_001354723.1:c.*43C=	NP_001341652.1:n.*43C=
NM_000551.4:c.489C= MANE Select	NP_000542.1:p.Leu163=
NM_001354723.2:c.*43C=	NP_001341652.1:n.*43C=
NM_198156.3:c.366C=	NP_937799.1:p.Leu122=