Canonical Allele Identifier: CA16602374
Gene: IDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375891
ClinVar RCV Id: RCV000418601 RCV000419656 RCV000420988 RCV000421691 RCV000426141 RCV000428207 RCV000429279 RCV000430360 RCV000434107 RCV000435816 RCV000436904 RCV000437909 RCV000438918 RCV000439965 RCV000441917 RCV000445302 RCV000997650 RCV002227473 RCV002291276 RCV003323531 RCV003458426
dbSNP Id: rs121913499
gnomAD v2: 2-209113113-G-A
gnomAD v3: 2-208248389-G-A
gnomAD v4: 2-208248389-G-A
COSMIC: COSM28747
MyVariant Identifiers: chr2:g.209113113G>A (hg19) chr2:g.208248389G>A (hg38)
CIViC: CA16602374
PubMed: PMID:19657110 PMID:20946881 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:25157968 PMID:26619011
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248389G>A , CM000664.2:g.208248389G>A GRCh38
NC_000002.11:g.209113113G>A , CM000664.1:g.209113113G>A GRCh37
NC_000002.10:g.208821358G>A NCBI36
NG_023319.2:g.22686C>T , LRG_610:g.22686C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000345146.7:c.394C>T MANE Select ENSP00000260985.2:p.Arg132Cys
ENST00000345146.6:c.394C>T ENSP00000260985.2:p.Arg132Cys
ENST00000415282.5:c.394C>T ENSP00000391075.1:p.Arg132Cys
ENST00000415913.5:c.394C>T ENSP00000390265.1:p.Arg132Cys
ENST00000446179.5:c.394C>T ENSP00000410513.1:p.Arg132Cys
ENST00000462386.5:n.607C>T
NM_001282386.1:c.394C>T , LRG_610t3:c.394C>T NP_001269315.1:p.Arg132Cys
NM_001282387.1:c.394C>T , LRG_610t2:c.394C>T NP_001269316.1:p.Arg132Cys
NM_005896.3:c.394C>T , LRG_610t1:c.394C>T NP_005887.2:p.Arg132Cys
NM_005896.4:c.394C>T MANE Select NP_005887.2:p.Arg132Cys
Search 100 bp 5'
Search 100 bp 3'