Canonical Allele Identifier: CA1345062889

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149915C= , CM000665.2:g.10149915C=	GRCh38
NC_000003.11:g.10191599C= , CM000665.1:g.10191599C=	GRCh37
NC_000003.10:g.10166599C=	NCBI36
NG_008212.3:g.13281C= , LRG_322:g.13281C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*269C=	ENSP00000512434.1:n.*269C=
ENST00000696143.1:c.728C=	ENSP00000512435.1:n.728C=
ENST00000696153.1:c.703C=	ENSP00000512444.1:p.Leu235=
ENST00000256474.3:c.592C= MANE Select	ENSP00000256474.3:p.Leu198=
ENST00000256474.2:c.592C=	ENSP00000256474.2:p.Leu198=
ENST00000345392.2:c.469C=	ENSP00000344757.2:p.Leu157=
ENST00000477538.1:n.728C=
NM_000551.3:c.592C= , LRG_322t1:c.592C=	NP_000542.1:p.Leu198=
NM_198156.2:c.469C=	NP_937799.1:p.Leu157=
NM_001354723.1:c.*146C=	NP_001341652.1:n.*146C=
NM_000551.4:c.592C= MANE Select	NP_000542.1:p.Leu198=
NM_001354723.2:c.*146C=	NP_001341652.1:n.*146C=
NM_198156.3:c.469C=	NP_937799.1:p.Leu157=