Canonical Allele Identifier: CA351750883
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10142139T>A
GRCh37 chr3:g.10183823T>A
Revel Score:
ENST00000256474 (MANE Select) 0.947
ENST00000345392 0.947
ClinVar RCV:
RCV003388486
ClinVar Variation:
2627292
dbSNP:
5030809
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142139T>A , CM000665.2:g.10142139T>A GRCh38
NC_000003.11:g.10183823T>A , CM000665.1:g.10183823T>A GRCh37
NC_000003.10:g.10158823T>A NCBI36
NG_008212.3:g.5505T>A , LRG_322:g.5505T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.292T>A ENSP00000512434.1:p.Tyr98Asn
ENST00000696143.1:c.292T>A ENSP00000512435.1:p.Tyr98Asn
ENST00000696153.1:c.292T>A ENSP00000512444.1:p.Tyr98Asn
ENST00000256474.3:c.292T>A MANE Select ENSP00000256474.3:p.Tyr98Asn
ENST00000256474.2:c.292T>A ENSP00000256474.2:p.Tyr98Asn
ENST00000345392.2:c.292T>A ENSP00000344757.2:p.Tyr98Asn
NM_000551.3:c.292T>A , LRG_322t1:c.292T>A NP_000542.1:p.Tyr98Asn
NM_198156.2:c.292T>A NP_937799.1:p.Tyr98Asn
XM_011534078.1:c.292T>A XP_011532380.1:p.Tyr98Asn
NM_001354723.1:c.292T>A NP_001341652.1:p.Tyr98Asn
NM_000551.4:c.292T>A MANE Select NP_000542.1:p.Tyr98Asn
NM_001354723.2:c.292T>A NP_001341652.1:p.Tyr98Asn
NM_198156.3:c.292T>A NP_937799.1:p.Tyr98Asn
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