Canonical Allele Identifier: CA1345063430

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150245A= , CM000665.2:g.10150245A=	GRCh38
NC_000003.11:g.10191929A= , CM000665.1:g.10191929A=	GRCh37
NC_000003.10:g.10166929A=	NCBI36
NG_008212.3:g.13611A= , LRG_322:g.13611A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*599A=	ENSP00000512434.1:n.*599A=
ENST00000696143.1:c.1058A=	ENSP00000512435.1:n.1058A=
ENST00000696153.1:c.*280A=	ENSP00000512444.1:n.*280A=
ENST00000256474.3:c.*280A= MANE Select	ENSP00000256474.3:n.*280A=
ENST00000256474.2:c.*280A=	ENSP00000256474.2:n.*280A=
ENST00000345392.2:c.*280A=	ENSP00000344757.2:n.*280A=
NM_000551.3:c.*280A= , LRG_322t1:c.*280A=	NP_000542.1:n.*280A=
NM_198156.2:c.*280A=	NP_937799.1:n.*280A=
NM_001354723.1:c.*476A=	NP_001341652.1:n.*476A=
NM_000551.4:c.*280A= MANE Select	NP_000542.1:n.*280A=
NM_001354723.2:c.*476A=	NP_001341652.1:n.*476A=
NM_198156.3:c.*280A=	NP_937799.1:n.*280A=