Canonical Allele Identifier: CA1345062406

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149833C= , CM000665.2:g.10149833C=	GRCh38
NC_000003.11:g.10191517C= , CM000665.1:g.10191517C=	GRCh37
NC_000003.10:g.10166517C=	NCBI36
NG_008212.3:g.13199C= , LRG_322:g.13199C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*187C=	ENSP00000512434.1:n.*187C=
ENST00000696143.1:c.646C=	ENSP00000512435.1:n.646C=
ENST00000696153.1:c.621C=	ENSP00000512444.1:p.Val207=
ENST00000256474.3:c.510C= MANE Select	ENSP00000256474.3:p.Val170=
ENST00000256474.2:c.510C=	ENSP00000256474.2:p.Val170=
ENST00000345392.2:c.387C=	ENSP00000344757.2:p.Val129=
ENST00000477538.1:n.646C=
NM_000551.3:c.510C= , LRG_322t1:c.510C=	NP_000542.1:p.Val170=
NM_198156.2:c.387C=	NP_937799.1:p.Val129=
NM_001354723.1:c.*64C=	NP_001341652.1:n.*64C=
NM_000551.4:c.510C= MANE Select	NP_000542.1:p.Val170=
NM_001354723.2:c.*64C=	NP_001341652.1:n.*64C=
NM_198156.3:c.387C=	NP_937799.1:p.Val129=