Canonical Allele Identifier: CA170874
Gene: IDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156444
ClinVar RCV Id: RCV000144504 RCV000419255 RCV000420454 RCV000421389 RCV000422344 RCV000423229 RCV000423408 RCV000427239 RCV000428884 RCV000429987 RCV000431117 RCV000432047 RCV000433068 RCV000439554 RCV000440637 RCV000441845 RCV000442517 RCV000445280 RCV000853347 RCV001269510 RCV001542733 RCV002227447 RCV003387509
dbSNP Id: rs121913500
ExAC: 2:209113112 C / T
gnomAD v2: 2-209113112-C-T
gnomAD v3: 2-208248388-C-T
gnomAD v4: 2-208248388-C-T
COSMIC: COSM28746
MyVariant Identifiers: chr2:g.209113112C>T (hg19) chr2:g.209113112_209113123delinsTGACCTATGATG (hg19) chr2:g.208248388C>T (hg38) chr2:g.208248388_208248399delinsTGACCTATGATG (hg38)
PubMed: PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:26619011
CIViC: CA170874
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248388C>T , CM000664.2:g.208248388C>T GRCh38
NC_000002.11:g.209113112C>T , CM000664.1:g.209113112C>T GRCh37
NC_000002.10:g.208821357C>T NCBI36
NG_023319.2:g.22687G>A , LRG_610:g.22687G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000345146.7:c.395G>A MANE Select ENSP00000260985.2:p.Arg132His
ENST00000345146.6:c.395G>A ENSP00000260985.2:p.Arg132His
ENST00000415282.5:c.395G>A ENSP00000391075.1:p.Arg132His
ENST00000415913.5:c.395G>A ENSP00000390265.1:p.Arg132His
ENST00000446179.5:c.395G>A ENSP00000410513.1:p.Arg132His
ENST00000462386.5:n.608G>A
NM_001282386.1:c.395G>A , LRG_610t3:c.395G>A NP_001269315.1:p.Arg132His
NM_001282387.1:c.395G>A , LRG_610t2:c.395G>A NP_001269316.1:p.Arg132His
NM_005896.3:c.395G>A , LRG_610t1:c.395G>A NP_005887.2:p.Arg132His
NM_005896.4:c.395G>A MANE Select NP_005887.2:p.Arg132His
Search 100 bp 5'
Search 100 bp 3'