Canonical Allele Identifier: CA351756143
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10149813C>A
GRCh37 chr3:g.10191497C>A
Revel Score:
ENST00000256474 (MANE Select) 0.816
ENST00000345392 0.816
ENST00000450183 0.816
ClinVar RCV:
RCV001526916
ClinVar Variation:
1172856
dbSNP:
5030819
JSON-LD

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
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