Canonical Allele Identifier: CA133331893
Gene: IRF4 HGNC NCBI

Linked Data

dbSNP Id: rs990234547
gnomAD v3: 6-396008-C-T
gnomAD v4: 6-396008-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396008C>T , CM000668.2:g.396008C>T GRCh38
NC_000006.11:g.396008C>T , CM000668.1:g.396008C>T GRCh37
NC_000006.10:g.341008C>T NCBI36
NG_027728.1:g.9270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000469834.2:n.653C>T
ENST00000493114.2:c.492+73C>T ENSP00000436094.2:n.492+73C>T
ENST00000696871.1:c.492+73C>T ENSP00000512940.1:n.492+73C>T
ENST00000696872.1:c.552+73C>T ENSP00000512941.1:n.552+73C>T
ENST00000696873.1:c.57+73C>T ENSP00000512942.1:n.57+73C>T
ENST00000380956.9:c.492+73C>T MANE Select ENSP00000370343.4:n.492+73C>T
ENST00000380956.8:c.492+73C>T ENSP00000370343.4:n.492+73C>T
ENST00000468485.5:n.407C>T
ENST00000493114.1:c.492+73C>T ENSP00000436094.1:n.492+73C>T
ENST00000495137.5:n.318+73C>T
NM_001195286.1:c.492+73C>T NP_001182215.1:n.492+73C>T
NM_002460.3:c.492+73C>T NP_002451.2:n.492+73C>T
NR_046000.2:n.618+73C>T
XM_006715090.1:c.492+73C>T XP_006715153.1:n.492+73C>T
XM_006715090.2:c.492+73C>T XP_006715153.1:n.492+73C>T
NM_002460.4:c.492+73C>T MANE Select NP_002451.2:n.492+73C>T
NM_001195286.2:c.492+73C>T NP_001182215.1:n.492+73C>T
NR_046000.3:n.605+73C>T