Canonical Allele Identifier: CA351756078
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 825149
ClinVar RCV Id: RCV001023000
dbSNP Id: rs1575932011
COSMIC: COSM144975
MyVariant Identifiers: chr3:g.10191482A>G (hg19) chr3:g.10149798A>G (hg38)
CIViC: CA351756078
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149798A>G , CM000665.2:g.10149798A>G GRCh38
NC_000003.11:g.10191482A>G , CM000665.1:g.10191482A>G GRCh37
NC_000003.10:g.10166482A>G NCBI36
NG_008212.3:g.13164A>G , LRG_322:g.13164A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*152A>G ENSP00000512434.1:n.*152A>G
ENST00000696143.1:c.611A>G ENSP00000512435.1:n.611A>G
ENST00000696153.1:c.586A>G ENSP00000512444.1:p.Lys196Glu
ENST00000256474.3:c.475A>G MANE Select ENSP00000256474.3:p.Lys159Glu
ENST00000256474.2:c.475A>G ENSP00000256474.2:p.Lys159Glu
ENST00000345392.2:c.352A>G ENSP00000344757.2:p.Lys118Glu
ENST00000477538.1:n.611A>G
NM_000551.3:c.475A>G , LRG_322t1:c.475A>G NP_000542.1:p.Lys159Glu
NM_198156.2:c.352A>G NP_937799.1:p.Lys118Glu
NM_001354723.1:c.*29A>G NP_001341652.1:n.*29A>G
NM_000551.4:c.475A>G MANE Select NP_000542.1:p.Lys159Glu
NM_001354723.2:c.*29A>G NP_001341652.1:n.*29A>G
NM_198156.3:c.352A>G NP_937799.1:p.Lys118Glu
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