Canonical Allele Identifier: CA020530

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149952G>A , CM000665.2:g.10149952G>A	GRCh38
NC_000003.11:g.10191636G>A , CM000665.1:g.10191636G>A	GRCh37
NC_000003.10:g.10166636G>A	NCBI36
NG_008212.3:g.13318G>A , LRG_322:g.13318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*306G>A	ENSP00000512434.1:n.*306G>A
ENST00000696143.1:c.765G>A	ENSP00000512435.1:n.765G>A
ENST00000696153.1:c.740G>A	ENSP00000512444.1:p.Arg247Gln
ENST00000256474.3:c.629G>A MANE Select	ENSP00000256474.3:p.Arg210Gln
ENST00000256474.2:c.629G>A	ENSP00000256474.2:p.Arg210Gln
ENST00000345392.2:c.506G>A	ENSP00000344757.2:p.Arg169Gln
ENST00000477538.1:n.765G>A
NM_000551.3:c.629G>A , LRG_322t1:c.629G>A	NP_000542.1:p.Arg210Gln
NM_198156.2:c.506G>A	NP_937799.1:p.Arg169Gln
NM_001354723.1:c.*183G>A	NP_001341652.1:n.*183G>A
NM_000551.4:c.629G>A MANE Select	NP_000542.1:p.Arg210Gln
NM_001354723.2:c.*183G>A	NP_001341652.1:n.*183G>A
NM_198156.3:c.506G>A	NP_937799.1:p.Arg169Gln