Canonical Allele Identifier: CA763946939

Gene: IDH1

Linked Data

• dbSNP Id: rs550533920
• gnomAD v3: 2-208248009-G-A
• gnomAD v4: 2-208248009-G-A
• MyVariant Identifiers: chr2:g.209112733G>A (hg19) ; chr2:g.208248009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208248009G>A , CM000664.2:g.208248009G>A	GRCh38
NC_000002.11:g.209112733G>A , CM000664.1:g.209112733G>A	GRCh37
NC_000002.10:g.208820978G>A	NCBI36
NG_023319.2:g.23066C>T , LRG_610:g.23066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.414+360C>T MANE Select	ENSP00000260985.2:n.414+360C>T
ENST00000345146.6:c.414+360C>T	ENSP00000260985.2:n.414+360C>T
ENST00000415282.5:c.414+360C>T	ENSP00000391075.1:n.414+360C>T
ENST00000415913.5:c.414+360C>T	ENSP00000390265.1:n.414+360C>T
ENST00000446179.5:c.414+360C>T	ENSP00000410513.1:n.414+360C>T
ENST00000462386.5:n.987C>T
NM_001282386.1:c.414+360C>T , LRG_610t3:c.414+360C>T	NP_001269315.1:n.414+360C>T
NM_001282387.1:c.414+360C>T , LRG_610t2:c.414+360C>T	NP_001269316.1:n.414+360C>T
NM_005896.3:c.414+360C>T , LRG_610t1:c.414+360C>T	NP_005887.2:n.414+360C>T
NM_005896.4:c.414+360C>T MANE Select	NP_005887.2:n.414+360C>T