Canonical Allele Identifier: CA1345063115

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149955T= , CM000665.2:g.10149955T=	GRCh38
NC_000003.11:g.10191639T= , CM000665.1:g.10191639T=	GRCh37
NC_000003.10:g.10166639T=	NCBI36
NG_008212.3:g.13321T= , LRG_322:g.13321T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*309T=	ENSP00000512434.1:n.*309T=
ENST00000696143.1:c.768T=	ENSP00000512435.1:n.768T=
ENST00000696153.1:c.743T=	ENSP00000512444.1:p.Met248=
ENST00000256474.3:c.632T= MANE Select	ENSP00000256474.3:p.Met211=
ENST00000256474.2:c.632T=	ENSP00000256474.2:p.Met211=
ENST00000345392.2:c.509T=	ENSP00000344757.2:p.Met170=
ENST00000477538.1:n.768T=
NM_000551.3:c.632T= , LRG_322t1:c.632T=	NP_000542.1:p.Met211=
NM_198156.2:c.509T=	NP_937799.1:p.Met170=
NM_001354723.1:c.*186T=	NP_001341652.1:n.*186T=
NM_000551.4:c.632T= MANE Select	NP_000542.1:p.Met211=
NM_001354723.2:c.*186T=	NP_001341652.1:n.*186T=
NM_198156.3:c.509T=	NP_937799.1:p.Met170=