Canonical Allele Identifier: CA041490

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149867A>G , CM000665.2:g.10149867A>G	GRCh38
NC_000003.11:g.10191551A>G , CM000665.1:g.10191551A>G	GRCh37
NC_000003.10:g.10166551A>G	NCBI36
NG_008212.3:g.13233A>G , LRG_322:g.13233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*221A>G	ENSP00000512434.1:n.*221A>G
ENST00000696143.1:c.680A>G	ENSP00000512435.1:n.680A>G
ENST00000696153.1:c.655A>G	ENSP00000512444.1:p.Arg219Gly
ENST00000256474.3:c.544A>G MANE Select	ENSP00000256474.3:p.Arg182Gly
ENST00000256474.2:c.544A>G	ENSP00000256474.2:p.Arg182Gly
ENST00000345392.2:c.421A>G	ENSP00000344757.2:p.Arg141Gly
ENST00000477538.1:n.680A>G
NM_000551.3:c.544A>G , LRG_322t1:c.544A>G	NP_000542.1:p.Arg182Gly
NM_198156.2:c.421A>G	NP_937799.1:p.Arg141Gly
NM_001354723.1:c.*98A>G	NP_001341652.1:n.*98A>G
NM_000551.4:c.544A>G MANE Select	NP_000542.1:p.Arg182Gly
NM_001354723.2:c.*98A>G	NP_001341652.1:n.*98A>G
NM_198156.3:c.421A>G	NP_937799.1:p.Arg141Gly