Canonical Allele Identifier: CA1345063382

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150186A= , CM000665.2:g.10150186A=	GRCh38
NC_000003.11:g.10191870A= , CM000665.1:g.10191870A=	GRCh37
NC_000003.10:g.10166870A=	NCBI36
NG_008212.3:g.13552A= , LRG_322:g.13552A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*540A=	ENSP00000512434.1:n.*540A=
ENST00000696143.1:c.999A=	ENSP00000512435.1:n.999A=
ENST00000696153.1:c.*221A=	ENSP00000512444.1:n.*221A=
ENST00000256474.3:c.*221A= MANE Select	ENSP00000256474.3:n.*221A=
ENST00000256474.2:c.*221A=	ENSP00000256474.2:n.*221A=
ENST00000345392.2:c.*221A=	ENSP00000344757.2:n.*221A=
NM_000551.3:c.*221A= , LRG_322t1:c.*221A=	NP_000542.1:n.*221A=
NM_198156.2:c.*221A=	NP_937799.1:n.*221A=
NM_001354723.1:c.*417A=	NP_001341652.1:n.*417A=
NM_000551.4:c.*221A= MANE Select	NP_000542.1:n.*221A=
NM_001354723.2:c.*417A=	NP_001341652.1:n.*417A=
NM_198156.3:c.*221A=	NP_937799.1:n.*221A=