Canonical Allele Identifier: CA1041749863

Gene: IDH1

Linked Data

• dbSNP Id: rs1004518060
• gnomAD v3: 2-208248144-G-GA
• gnomAD v4: 2-208248144-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208248152dup , CM000664.2:g.208248152dup	GRCh38
NC_000002.11:g.209112876dup , CM000664.1:g.209112876dup	GRCh37
NC_000002.10:g.208821121dup	NCBI36
NG_023319.2:g.22930dup , LRG_610:g.22930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.414+224dup MANE Select	ENSP00000260985.2:n.414+224dup
ENST00000345146.6:c.414+224dup	ENSP00000260985.2:n.414+224dup
ENST00000415282.5:c.414+224dup	ENSP00000391075.1:n.414+224dup
ENST00000415913.5:c.414+224dup	ENSP00000390265.1:n.414+224dup
ENST00000446179.5:c.414+224dup	ENSP00000410513.1:n.414+224dup
ENST00000462386.5:n.851dup
NM_001282386.1:c.414+224dup , LRG_610t3:c.414+224dup	NP_001269315.1:n.414+224dup
NM_001282387.1:c.414+224dup , LRG_610t2:c.414+224dup	NP_001269316.1:n.414+224dup
NM_005896.3:c.414+224dup , LRG_610t1:c.414+224dup	NP_005887.2:n.414+224dup
NM_005896.4:c.414+224dup MANE Select	NP_005887.2:n.414+224dup