Canonical Allele Identifier: CA11096430
Gene: IDH1 HGNC NCBI
IDH1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.208255534G>T
GRCh37 chr2:g.209120258G>T
gnomAD v2:
2:209120258 G / T
gnomAD v3:
2:208255534 G / T
gnomAD v4:
chr2-208255534-G-T
Joint Max Group AF 0.47142445 (EAS)
Genomes Max Group AF 0.47142445 (EAS)
Exomes Max Group AF 0.05938612 (NFE)
dbSNP:
12478635
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208255534G>T , CM000664.2:g.208255534G>T GRCh38
NC_000002.11:g.209120258G>T , CM000664.1:g.209120258G>T GRCh37
NC_000002.10:g.208828503G>T NCBI36
NG_023319.2:g.15541C>A , LRG_610:g.15541C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000417583.5:c.-217C>A (IDH1) ENSP00000409045.1:n.-217C>A
ENST00000451391.5:c.-217C>A (IDH1) ENSP00000396787.1:n.-217C>A
NR_046452.1:n.199+103G>T (IDH1-AS1)
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