Canonical Allele Identifier: CA1345061425

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149093T= , CM000665.2:g.10149093T=	GRCh38
NC_000003.11:g.10190777T= , CM000665.1:g.10190777T=	GRCh37
NC_000003.10:g.10165777T=	NCBI36
NG_008212.3:g.12459T= , LRG_322:g.12459T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.464-694T= MANE Select	NP_000542.1:n.464-694T=
ENST00000256474.3:c.464-694T= MANE Select	ENSP00000256474.3:n.464-694T=
NM_000551.3:c.464-694T= , LRG_322t1:c.464-694T=	NP_000542.1:n.464-694T=
NM_001354723.1:c.*18-694T=	NP_001341652.1:n.*18-694T=
NM_001354723.2:c.*18-694T=	NP_001341652.1:n.*18-694T=
NM_198156.2:c.341-694T=	NP_937799.1:n.341-694T=
NM_198156.3:c.341-694T=	NP_937799.1:n.341-694T=
ENST00000256474.2:c.464-694T=	ENSP00000256474.2:n.464-694T=
ENST00000345392.2:c.341-694T=	ENSP00000344757.2:n.341-694T=
ENST00000477538.1:n.600-694T=
ENST00000696142.1:c.*141-694T=	ENSP00000512434.1:n.*141-694T=
ENST00000696143.1:c.600-694T=	ENSP00000512435.1:n.600-694T=
ENST00000696153.1:c.574+279T=	ENSP00000512444.1:n.574+279T=