Canonical Allele Identifier: CA357068
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223215
ClinVar RCV Id: RCV000208823
dbSNP Id: rs869025655
COSMIC: COSM14389
MyVariant Identifiers: chr3:g.10188309T>G (hg19) chr3:g.10146625T>G (hg38)
CIViC: CA357068
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146625T>G , CM000665.2:g.10146625T>G GRCh38
NC_000003.11:g.10188309T>G , CM000665.1:g.10188309T>G GRCh37
NC_000003.10:g.10163309T>G NCBI36
NG_008212.3:g.9991T>G , LRG_322:g.9991T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*129T>G ENSP00000512434.1:n.*129T>G
ENST00000696143.1:c.600-3162T>G ENSP00000512435.1:n.600-3162T>G
ENST00000696153.1:c.452T>G ENSP00000512444.1:p.Ile151Ser
ENST00000256474.3:c.452T>G MANE Select ENSP00000256474.3:p.Ile151Ser
ENST00000256474.2:c.452T>G ENSP00000256474.2:p.Ile151Ser
ENST00000345392.2:c.341-3162T>G ENSP00000344757.2:n.341-3162T>G
ENST00000477538.1:n.588T>G
NM_000551.3:c.452T>G , LRG_322t1:c.452T>G NP_000542.1:p.Ile151Ser
NM_198156.2:c.341-3162T>G NP_937799.1:n.341-3162T>G
NM_001354723.1:c.*18-3162T>G NP_001341652.1:n.*18-3162T>G
NM_000551.4:c.452T>G MANE Select NP_000542.1:p.Ile151Ser
NM_001354723.2:c.*18-3162T>G NP_001341652.1:n.*18-3162T>G
NM_198156.3:c.341-3162T>G NP_937799.1:n.341-3162T>G
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