Canonical Allele Identifier: CA432424019

Gene: VHL

Linked Data

• dbSNP Id: rs2125130886
• MyVariant Identifiers: chr3:g.10191643A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149959A>G , CM000665.2:g.10149959A>G	GRCh38
NC_000003.11:g.10191643A>G , CM000665.1:g.10191643A>G	GRCh37
NC_000003.10:g.10166643A>G	NCBI36
NG_008212.3:g.13325A>G , LRG_322:g.13325A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*313A>G	ENSP00000512434.1:n.*313A>G
ENST00000696143.1:c.772A>G	ENSP00000512435.1:n.772A>G
ENST00000696153.1:c.747A>G	ENSP00000512444.1:p.Gly249=
ENST00000256474.3:c.636A>G MANE Select	ENSP00000256474.3:p.Gly212=
ENST00000256474.2:c.636A>G	ENSP00000256474.2:p.Gly212=
ENST00000345392.2:c.513A>G	ENSP00000344757.2:p.Gly171=
ENST00000477538.1:n.772A>G
NM_000551.3:c.636A>G , LRG_322t1:c.636A>G	NP_000542.1:p.Gly212=
NM_198156.2:c.513A>G	NP_937799.1:p.Gly171=
NM_001354723.1:c.*190A>G	NP_001341652.1:n.*190A>G
NM_000551.4:c.636A>G MANE Select	NP_000542.1:p.Gly212=
NM_001354723.2:c.*190A>G	NP_001341652.1:n.*190A>G
NM_198156.3:c.513A>G	NP_937799.1:p.Gly171=