Canonical Allele Identifier: CA351756145

Gene: VHL

Linked Data

• ClinVar Variation Id: 625253
• ClinVar RCV Id: RCV000767279
• dbSNP Id: rs5030819
• MyVariant Identifiers: chr3:g.10191497C>G (hg19) ; chr3:g.10149813C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*167C>G	ENSP00000512434.1:n.*167C>G
ENST00000696143.1:c.626C>G	ENSP00000512435.1:n.626C>G
ENST00000696153.1:c.601C>G	ENSP00000512444.1:p.Gln201Glu
ENST00000256474.3:c.490C>G MANE Select	ENSP00000256474.3:p.Gln164Glu
ENST00000256474.2:c.490C>G	ENSP00000256474.2:p.Gln164Glu
ENST00000345392.2:c.367C>G	ENSP00000344757.2:p.Gln123Glu
ENST00000477538.1:n.626C>G
NM_000551.3:c.490C>G , LRG_322t1:c.490C>G	NP_000542.1:p.Gln164Glu
NM_198156.2:c.367C>G	NP_937799.1:p.Gln123Glu
NM_001354723.1:c.*44C>G	NP_001341652.1:n.*44C>G
NM_000551.4:c.490C>G MANE Select	NP_000542.1:p.Gln164Glu
NM_001354723.2:c.*44C>G	NP_001341652.1:n.*44C>G
NM_198156.3:c.367C>G	NP_937799.1:p.Gln123Glu