Canonical Allele Identifier: CA351756400
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 970971
ClinVar RCV Id: RCV001246640
dbSNP Id: rs1559429824
COSMIC: COSM25680
MyVariant Identifiers: chr3:g.10191570T>G (hg19) chr3:g.10149886T>G (hg38)
CIViC: CA351756400
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149886T>G , CM000665.2:g.10149886T>G GRCh38
NC_000003.11:g.10191570T>G , CM000665.1:g.10191570T>G GRCh37
NC_000003.10:g.10166570T>G NCBI36
NG_008212.3:g.13252T>G , LRG_322:g.13252T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*240T>G ENSP00000512434.1:n.*240T>G
ENST00000696143.1:c.699T>G ENSP00000512435.1:n.699T>G
ENST00000696153.1:c.674T>G ENSP00000512444.1:p.Leu225Arg
ENST00000256474.3:c.563T>G MANE Select ENSP00000256474.3:p.Leu188Arg
ENST00000256474.2:c.563T>G ENSP00000256474.2:p.Leu188Arg
ENST00000345392.2:c.440T>G ENSP00000344757.2:p.Leu147Arg
ENST00000477538.1:n.699T>G
NM_000551.3:c.563T>G , LRG_322t1:c.563T>G NP_000542.1:p.Leu188Arg
NM_198156.2:c.440T>G NP_937799.1:p.Leu147Arg
NM_001354723.1:c.*117T>G NP_001341652.1:n.*117T>G
NM_000551.4:c.563T>G MANE Select NP_000542.1:p.Leu188Arg
NM_001354723.2:c.*117T>G NP_001341652.1:n.*117T>G
NM_198156.3:c.440T>G NP_937799.1:p.Leu147Arg
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