Canonical Allele Identifier: CA351756143

Gene: VHL

Linked Data

• ClinVar Variation Id: 1172856
• ClinVar RCV Id: RCV001526916
• dbSNP Id: rs5030819
• MyVariant Identifiers: chr3:g.10191497C>A (hg19) ; chr3:g.10149813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149813C>A , CM000665.2:g.10149813C>A	GRCh38
NC_000003.11:g.10191497C>A , CM000665.1:g.10191497C>A	GRCh37
NC_000003.10:g.10166497C>A	NCBI36
NG_008212.3:g.13179C>A , LRG_322:g.13179C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*167C>A	ENSP00000512434.1:n.*167C>A
ENST00000696143.1:c.626C>A	ENSP00000512435.1:n.626C>A
ENST00000696153.1:c.601C>A	ENSP00000512444.1:p.Gln201Lys
ENST00000256474.3:c.490C>A MANE Select	ENSP00000256474.3:p.Gln164Lys
ENST00000256474.2:c.490C>A	ENSP00000256474.2:p.Gln164Lys
ENST00000345392.2:c.367C>A	ENSP00000344757.2:p.Gln123Lys
ENST00000477538.1:n.626C>A
NM_000551.3:c.490C>A , LRG_322t1:c.490C>A	NP_000542.1:p.Gln164Lys
NM_198156.2:c.367C>A	NP_937799.1:p.Gln123Lys
NM_001354723.1:c.*44C>A	NP_001341652.1:n.*44C>A
NM_000551.4:c.490C>A MANE Select	NP_000542.1:p.Gln164Lys
NM_001354723.2:c.*44C>A	NP_001341652.1:n.*44C>A
NM_198156.3:c.367C>A	NP_937799.1:p.Gln123Lys