Canonical Allele Identifier: CA351756716

Gene: VHL

Linked Data

• dbSNP Id: rs775624944
• MyVariant Identifiers: chr3:g.10191646T>A (hg19) ; chr3:g.10149962T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149962T>A , CM000665.2:g.10149962T>A	GRCh38
NC_000003.11:g.10191646T>A , CM000665.1:g.10191646T>A	GRCh37
NC_000003.10:g.10166646T>A	NCBI36
NG_008212.3:g.13328T>A , LRG_322:g.13328T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*316T>A	ENSP00000512434.1:n.*316T>A
ENST00000696143.1:c.775T>A	ENSP00000512435.1:n.775T>A
ENST00000696153.1:c.750T>A	ENSP00000512444.1:p.Asp250Glu
ENST00000256474.3:c.639T>A MANE Select	ENSP00000256474.3:p.Asp213Glu
ENST00000256474.2:c.639T>A	ENSP00000256474.2:p.Asp213Glu
ENST00000345392.2:c.516T>A	ENSP00000344757.2:p.Asp172Glu
ENST00000477538.1:n.775T>A
NM_000551.3:c.639T>A , LRG_322t1:c.639T>A	NP_000542.1:p.Asp213Glu
NM_198156.2:c.516T>A	NP_937799.1:p.Asp172Glu
NM_001354723.1:c.*193T>A	NP_001341652.1:n.*193T>A
NM_000551.4:c.639T>A MANE Select	NP_000542.1:p.Asp213Glu
NM_001354723.2:c.*193T>A	NP_001341652.1:n.*193T>A
NM_198156.3:c.516T>A	NP_937799.1:p.Asp172Glu