Canonical Allele Identifier: CA16602515
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10149796T>A
GRCh37 chr3:g.10191480T>A
Revel Score:
ENST00000256474 (MANE Select) 0.910
ENST00000345392 0.910
ENST00000450183 0.910
ClinVar RCV:
RCV000428620
ClinVar Variation:
376048
dbSNP:
121913346
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149796T>A , CM000665.2:g.10149796T>A GRCh38
NC_000003.11:g.10191480T>A , CM000665.1:g.10191480T>A GRCh37
NC_000003.10:g.10166480T>A NCBI36
NG_008212.3:g.13162T>A , LRG_322:g.13162T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*150T>A ENSP00000512434.1:n.*150T>A
ENST00000696143.1:c.609T>A ENSP00000512435.1:n.609T>A
ENST00000696153.1:c.584T>A ENSP00000512444.1:p.Leu195Gln
ENST00000256474.3:c.473T>A MANE Select ENSP00000256474.3:p.Leu158Gln
ENST00000256474.2:c.473T>A ENSP00000256474.2:p.Leu158Gln
ENST00000345392.2:c.350T>A ENSP00000344757.2:p.Leu117Gln
ENST00000477538.1:n.609T>A
NM_000551.3:c.473T>A , LRG_322t1:c.473T>A NP_000542.1:p.Leu158Gln
NM_198156.2:c.350T>A NP_937799.1:p.Leu117Gln
NM_001354723.1:c.*27T>A NP_001341652.1:n.*27T>A
NM_000551.4:c.473T>A MANE Select NP_000542.1:p.Leu158Gln
NM_001354723.2:c.*27T>A NP_001341652.1:n.*27T>A
NM_198156.3:c.350T>A NP_937799.1:p.Leu117Gln
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