Canonical Allele Identifier: CA1041749885

Gene: IDH1

Linked Data

• dbSNP Id: rs1688058564
• gnomAD v3: 2-208248246-A-G
• gnomAD v4: 2-208248246-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208248246A>G , CM000664.2:g.208248246A>G	GRCh38
NC_000002.11:g.209112970A>G , CM000664.1:g.209112970A>G	GRCh37
NC_000002.10:g.208821215A>G	NCBI36
NG_023319.2:g.22829T>C , LRG_610:g.22829T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.414+123T>C MANE Select	ENSP00000260985.2:n.414+123T>C
ENST00000345146.6:c.414+123T>C	ENSP00000260985.2:n.414+123T>C
ENST00000415282.5:c.414+123T>C	ENSP00000391075.1:n.414+123T>C
ENST00000415913.5:c.414+123T>C	ENSP00000390265.1:n.414+123T>C
ENST00000446179.5:c.414+123T>C	ENSP00000410513.1:n.414+123T>C
ENST00000462386.5:n.750T>C
NM_001282386.1:c.414+123T>C , LRG_610t3:c.414+123T>C	NP_001269315.1:n.414+123T>C
NM_001282387.1:c.414+123T>C , LRG_610t2:c.414+123T>C	NP_001269316.1:n.414+123T>C
NM_005896.3:c.414+123T>C , LRG_610t1:c.414+123T>C	NP_005887.2:n.414+123T>C
NM_005896.4:c.414+123T>C MANE Select	NP_005887.2:n.414+123T>C