Canonical Allele Identifier: CA351756405

Gene: VHL

Linked Data

• dbSNP Id: rs2125130709
• COSMIC: COSM6444474
• MyVariant Identifiers: chr3:g.10191573A>T (hg19) ; chr3:g.10149889A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149889A>T , CM000665.2:g.10149889A>T	GRCh38
NC_000003.11:g.10191573A>T , CM000665.1:g.10191573A>T	GRCh37
NC_000003.10:g.10166573A>T	NCBI36
NG_008212.3:g.13255A>T , LRG_322:g.13255A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*243A>T	ENSP00000512434.1:n.*243A>T
ENST00000696143.1:c.702A>T	ENSP00000512435.1:n.702A>T
ENST00000696153.1:c.677A>T	ENSP00000512444.1:p.Glu226Val
ENST00000256474.3:c.566A>T MANE Select	ENSP00000256474.3:p.Glu189Val
ENST00000256474.2:c.566A>T	ENSP00000256474.2:p.Glu189Val
ENST00000345392.2:c.443A>T	ENSP00000344757.2:p.Glu148Val
ENST00000477538.1:n.702A>T
NM_000551.3:c.566A>T , LRG_322t1:c.566A>T	NP_000542.1:p.Glu189Val
NM_198156.2:c.443A>T	NP_937799.1:p.Glu148Val
NM_001354723.1:c.*120A>T	NP_001341652.1:n.*120A>T
NM_000551.4:c.566A>T MANE Select	NP_000542.1:p.Glu189Val
NM_001354723.2:c.*120A>T	NP_001341652.1:n.*120A>T
NM_198156.3:c.443A>T	NP_937799.1:p.Glu148Val