Canonical Allele Identifier: CA173957
Gene: IRF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 160346
ClinVar RCV Id: RCV000148012
dbSNP Id: rs12203592
gnomAD v2: 6-396321-C-T
gnomAD v3: 6-396321-C-T
gnomAD v4: 6-396321-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396321C>T , CM000668.2:g.396321C>T GRCh38
NC_000006.11:g.396321C>T , CM000668.1:g.396321C>T GRCh37
NC_000006.10:g.341321C>T NCBI36
NG_027728.1:g.9583C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000493114.2:c.492+386C>T ENSP00000436094.2:n.492+386C>T
ENST00000696871.1:c.492+386C>T ENSP00000512940.1:n.492+386C>T
ENST00000696872.1:c.552+386C>T ENSP00000512941.1:n.552+386C>T
ENST00000696873.1:c.57+386C>T ENSP00000512942.1:n.57+386C>T
ENST00000380956.9:c.492+386C>T MANE Select ENSP00000370343.4:n.492+386C>T
ENST00000380956.8:c.492+386C>T ENSP00000370343.4:n.492+386C>T
ENST00000493114.1:c.492+386C>T ENSP00000436094.1:n.492+386C>T
ENST00000495137.5:n.318+386C>T
NM_001195286.1:c.492+386C>T NP_001182215.1:n.492+386C>T
NM_002460.3:c.492+386C>T NP_002451.2:n.492+386C>T
NR_046000.2:n.618+386C>T
XM_006715090.1:c.492+386C>T XP_006715153.1:n.492+386C>T
XM_006715090.2:c.492+386C>T XP_006715153.1:n.492+386C>T
NM_002460.4:c.492+386C>T MANE Select NP_002451.2:n.492+386C>T
NM_001195286.2:c.492+386C>T NP_001182215.1:n.492+386C>T
NR_046000.3:n.605+386C>T