Canonical Allele Identifier: CA1345062333

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149820T= , CM000665.2:g.10149820T=	GRCh38
NC_000003.11:g.10191504T= , CM000665.1:g.10191504T=	GRCh37
NC_000003.10:g.10166504T=	NCBI36
NG_008212.3:g.13186T= , LRG_322:g.13186T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.497T= MANE Select	NP_000542.1:p.Val166=
ENST00000256474.3:c.497T= MANE Select	ENSP00000256474.3:p.Val166=
NM_000551.3:c.497T= , LRG_322t1:c.497T=	NP_000542.1:p.Val166=
NM_001354723.1:c.*51T=	NP_001341652.1:n.*51T=
NM_001354723.2:c.*51T=	NP_001341652.1:n.*51T=
NM_198156.2:c.374T=	NP_937799.1:p.Val125=
NM_198156.3:c.374T=	NP_937799.1:p.Val125=
ENST00000256474.2:c.497T=	ENSP00000256474.2:p.Val166=
ENST00000345392.2:c.374T=	ENSP00000344757.2:p.Val125=
ENST00000477538.1:n.633T=
ENST00000696142.1:c.*174T=	ENSP00000512434.1:n.*174T=
ENST00000696143.1:c.633T=	ENSP00000512435.1:n.633T=
ENST00000696153.1:c.608T=	ENSP00000512444.1:p.Val203=