Canonical Allele Identifier: CA351756587

Gene: VHL

Linked Data

• dbSNP Id: rs2125130793
• MyVariant Identifiers: chr3:g.10191609T>A (hg19) ; chr3:g.10149925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149925T>A , CM000665.2:g.10149925T>A	GRCh38
NC_000003.11:g.10191609T>A , CM000665.1:g.10191609T>A	GRCh37
NC_000003.10:g.10166609T>A	NCBI36
NG_008212.3:g.13291T>A , LRG_322:g.13291T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*279T>A	ENSP00000512434.1:n.*279T>A
ENST00000696143.1:c.738T>A	ENSP00000512435.1:n.738T>A
ENST00000696153.1:c.713T>A	ENSP00000512444.1:p.Leu238Gln
ENST00000256474.3:c.602T>A MANE Select	ENSP00000256474.3:p.Leu201Gln
ENST00000256474.2:c.602T>A	ENSP00000256474.2:p.Leu201Gln
ENST00000345392.2:c.479T>A	ENSP00000344757.2:p.Leu160Gln
ENST00000477538.1:n.738T>A
NM_000551.3:c.602T>A , LRG_322t1:c.602T>A	NP_000542.1:p.Leu201Gln
NM_198156.2:c.479T>A	NP_937799.1:p.Leu160Gln
NM_001354723.1:c.*156T>A	NP_001341652.1:n.*156T>A
NM_000551.4:c.602T>A MANE Select	NP_000542.1:p.Leu201Gln
NM_001354723.2:c.*156T>A	NP_001341652.1:n.*156T>A
NM_198156.3:c.479T>A	NP_937799.1:p.Leu160Gln