Canonical Allele Identifier: CA351756120

Gene: VHL

Linked Data

• dbSNP Id: rs1553620313
• MyVariant Identifiers: chr3:g.10191491T>A (hg19) ; chr3:g.10149807T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149807T>A , CM000665.2:g.10149807T>A	GRCh38
NC_000003.11:g.10191491T>A , CM000665.1:g.10191491T>A	GRCh37
NC_000003.10:g.10166491T>A	NCBI36
NG_008212.3:g.13173T>A , LRG_322:g.13173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*161T>A	ENSP00000512434.1:n.*161T>A
ENST00000696143.1:c.620T>A	ENSP00000512435.1:n.620T>A
ENST00000696153.1:c.595T>A	ENSP00000512444.1:p.Cys199Ser
ENST00000256474.3:c.484T>A MANE Select	ENSP00000256474.3:p.Cys162Ser
ENST00000256474.2:c.484T>A	ENSP00000256474.2:p.Cys162Ser
ENST00000345392.2:c.361T>A	ENSP00000344757.2:p.Cys121Ser
ENST00000477538.1:n.620T>A
NM_000551.3:c.484T>A , LRG_322t1:c.484T>A	NP_000542.1:p.Cys162Ser
NM_198156.2:c.361T>A	NP_937799.1:p.Cys121Ser
NM_001354723.1:c.*38T>A	NP_001341652.1:n.*38T>A
NM_000551.4:c.484T>A MANE Select	NP_000542.1:p.Cys162Ser
NM_001354723.2:c.*38T>A	NP_001341652.1:n.*38T>A
NM_198156.3:c.361T>A	NP_937799.1:p.Cys121Ser