Canonical Allele Identifier: CA357101
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223193
ClinVar RCV Id: RCV003765349
dbSNP Id: rs869025636
COSMIC: COSM18065
MyVariant Identifiers: chr3:g.10183871G>C (hg19) chr3:g.10142187G>C (hg38)
PCER: P-CER:CA357101/193300
CIViC: CA357101
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142187G>C , CM000665.2:g.10142187G>C GRCh38
NC_000003.11:g.10183871G>C , CM000665.1:g.10183871G>C GRCh37
NC_000003.10:g.10158871G>C NCBI36
NG_008212.3:g.5553G>C , LRG_322:g.5553G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.340G>C ENSP00000512434.1:p.Val114Leu
ENST00000696143.1:c.340G>C ENSP00000512435.1:p.Val114Leu
ENST00000696153.1:c.340G>C ENSP00000512444.1:p.Gly114Arg
ENST00000256474.3:c.340G>C MANE Select ENSP00000256474.3:p.Gly114Arg
ENST00000256474.2:c.340G>C ENSP00000256474.2:p.Gly114Arg
ENST00000345392.2:c.340G>C ENSP00000344757.2:p.Val114Leu
NM_000551.3:c.340G>C , LRG_322t1:c.340G>C NP_000542.1:p.Gly114Arg
NM_198156.2:c.340G>C NP_937799.1:p.Val114Leu
XM_011534078.1:c.340G>C XP_011532380.1:p.Val114Leu
NM_001354723.1:c.340G>C NP_001341652.1:p.Val114Leu
NM_000551.4:c.340G>C MANE Select NP_000542.1:p.Gly114Arg
NM_001354723.2:c.340G>C NP_001341652.1:p.Val114Leu
NM_198156.3:c.340G>C NP_937799.1:p.Val114Leu
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