Canonical Allele Identifier: CA2662867212

Gene: IDH1

Linked Data

• gnomAD v4: 2-208247994-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208247994C>A , CM000664.2:g.208247994C>A	GRCh38
NC_000002.11:g.209112718C>A , CM000664.1:g.209112718C>A	GRCh37
NC_000002.10:g.208820963C>A	NCBI36
NG_023319.2:g.23081G>T , LRG_610:g.23081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.414+375G>T MANE Select	ENSP00000260985.2:n.414+375G>T
ENST00000345146.6:c.414+375G>T	ENSP00000260985.2:n.414+375G>T
ENST00000415282.5:c.414+375G>T	ENSP00000391075.1:n.414+375G>T
ENST00000415913.5:c.414+375G>T	ENSP00000390265.1:n.414+375G>T
ENST00000446179.5:c.414+375G>T	ENSP00000410513.1:n.414+375G>T
ENST00000462386.5:n.1002G>T
NM_001282386.1:c.414+375G>T , LRG_610t3:c.414+375G>T	NP_001269315.1:n.414+375G>T
NM_001282387.1:c.414+375G>T , LRG_610t2:c.414+375G>T	NP_001269316.1:n.414+375G>T
NM_005896.3:c.414+375G>T , LRG_610t1:c.414+375G>T	NP_005887.2:n.414+375G>T
NM_005896.4:c.414+375G>T MANE Select	NP_005887.2:n.414+375G>T