Canonical Allele Identifier: CA041537
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411985
ClinVar RCV Id: RCV002349982 RCV003237874
dbSNP Id: rs5030823
ExAC: 3:10191555 C / T
gnomAD v2: 3-10191555-C-T
gnomAD v3: 3-10149871-C-T
gnomAD v4: 3-10149871-C-T
MyVariant Identifiers: chr3:g.10191555C>T (hg19) chr3:g.10149871C>T (hg38)
CIViC: CA041537
PCER: P-CER:CA041537/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149871C>T , CM000665.2:g.10149871C>T GRCh38
NC_000003.11:g.10191555C>T , CM000665.1:g.10191555C>T GRCh37
NC_000003.10:g.10166555C>T NCBI36
NG_008212.3:g.13237C>T , LRG_322:g.13237C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*225C>T ENSP00000512434.1:n.*225C>T
ENST00000696143.1:c.684C>T ENSP00000512435.1:n.684C>T
ENST00000696153.1:c.659C>T ENSP00000512444.1:p.Ser220Leu
ENST00000256474.3:c.548C>T MANE Select ENSP00000256474.3:p.Ser183Leu
ENST00000256474.2:c.548C>T ENSP00000256474.2:p.Ser183Leu
ENST00000345392.2:c.425C>T ENSP00000344757.2:p.Ser142Leu
ENST00000477538.1:n.684C>T
NM_000551.3:c.548C>T , LRG_322t1:c.548C>T NP_000542.1:p.Ser183Leu
NM_198156.2:c.425C>T NP_937799.1:p.Ser142Leu
NM_001354723.1:c.*102C>T NP_001341652.1:n.*102C>T
NM_000551.4:c.548C>T MANE Select NP_000542.1:p.Ser183Leu
NM_001354723.2:c.*102C>T NP_001341652.1:n.*102C>T
NM_198156.3:c.425C>T NP_937799.1:p.Ser142Leu
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