Canonical Allele Identifier: CA351756355
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1064793878
COSMIC: COSM249315
MyVariant Identifiers: chr3:g.10191558T>G (hg19) chr3:g.10149874T>G (hg38)
CIViC: CA351756355
PCER: P-CER:CA351756355/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149874T>G , CM000665.2:g.10149874T>G GRCh38
NC_000003.11:g.10191558T>G , CM000665.1:g.10191558T>G GRCh37
NC_000003.10:g.10166558T>G NCBI36
NG_008212.3:g.13240T>G , LRG_322:g.13240T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*228T>G ENSP00000512434.1:n.*228T>G
ENST00000696143.1:c.687T>G ENSP00000512435.1:n.687T>G
ENST00000696153.1:c.662T>G ENSP00000512444.1:p.Leu221Arg
ENST00000256474.3:c.551T>G MANE Select ENSP00000256474.3:p.Leu184Arg
ENST00000256474.2:c.551T>G ENSP00000256474.2:p.Leu184Arg
ENST00000345392.2:c.428T>G ENSP00000344757.2:p.Leu143Arg
ENST00000477538.1:n.687T>G
NM_000551.3:c.551T>G , LRG_322t1:c.551T>G NP_000542.1:p.Leu184Arg
NM_198156.2:c.428T>G NP_937799.1:p.Leu143Arg
NM_001354723.1:c.*105T>G NP_001341652.1:n.*105T>G
NM_000551.4:c.551T>G MANE Select NP_000542.1:p.Leu184Arg
NM_001354723.2:c.*105T>G NP_001341652.1:n.*105T>G
NM_198156.3:c.428T>G NP_937799.1:p.Leu143Arg
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