Canonical Allele Identifier: CA6672759
Gene: IRAK3 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.66228282C>T
GRCh37 chr12:g.66622062C>T
gnomAD v2:
12:66622062 C / T
gnomAD v3:
12:66228282 C / T
gnomAD v4:
chr12-66228282-C-T
Joint Max Group AF 0.00022382 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00023608 (MID)
ClinVar RCV:
RCV000479391
ClinVar Variation:
422424
dbSNP:
367600113
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.66228282C>T , CM000674.2:g.66228282C>T GRCh38
NC_000012.11:g.66622062C>T , CM000674.1:g.66622062C>T GRCh37
NC_000012.10:g.64908329C>T NCBI36
NG_021194.1:g.44085C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261233.9:c.799C>T MANE Select ENSP00000261233.4:p.Arg267Ter
ENST00000261233.8:c.799C>T ENSP00000261233.4:p.Arg267Ter
ENST00000457197.2:c.616C>T ENSP00000409852.2:p.Arg206Ter
NM_001142523.1:c.616C>T NP_001135995.1:p.Arg206Ter
NM_007199.2:c.799C>T NP_009130.2:p.Arg267Ter
NM_001142523.2:c.616C>T NP_001135995.1:p.Arg206Ter
NM_007199.3:c.799C>T MANE Select NP_009130.2:p.Arg267Ter
Search 100 bp 5'
Search 100 bp 3'