Canonical Allele Identifier: CA170874

Gene: IDH1

Linked Data

• ClinVar Variation Id: 156444
• ClinVar RCV Id: RCV000144504 ; RCV000420454 ; RCV000419255 ; RCV000422344 ; RCV000421389 ; RCV000423408 ; RCV000432047 ; RCV000433068 ; RCV000439554 ; RCV000440637 ; RCV000441845 ; RCV000428884 ; RCV000429987 ; RCV000423229 ; RCV000427239 ; RCV000431117 ; RCV000442517 ; RCV000445280 ; RCV000853347 ; RCV001542733 ; RCV001269510 ; 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)
• CIViC: CA170874
• 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

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