Canonical Allele Identifier: CA1605235567
Gene: IRF4 HGNC NCBI

Linked Data

dbSNP Id: rs1761246412
gnomAD v4: 6-396042-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396042T>C , CM000668.2:g.396042T>C GRCh38
NC_000006.11:g.396042T>C , CM000668.1:g.396042T>C GRCh37
NC_000006.10:g.341042T>C NCBI36
NG_027728.1:g.9304T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000469834.2:n.687T>C
ENST00000493114.2:c.492+107T>C ENSP00000436094.2:n.492+107T>C
ENST00000696871.1:c.492+107T>C ENSP00000512940.1:n.492+107T>C
ENST00000696872.1:c.552+107T>C ENSP00000512941.1:n.552+107T>C
ENST00000696873.1:c.57+107T>C ENSP00000512942.1:n.57+107T>C
ENST00000380956.9:c.492+107T>C MANE Select ENSP00000370343.4:n.492+107T>C
ENST00000380956.8:c.492+107T>C ENSP00000370343.4:n.492+107T>C
ENST00000468485.5:n.441T>C
ENST00000493114.1:c.492+107T>C ENSP00000436094.1:n.492+107T>C
ENST00000495137.5:n.318+107T>C
NM_001195286.1:c.492+107T>C NP_001182215.1:n.492+107T>C
NM_002460.3:c.492+107T>C NP_002451.2:n.492+107T>C
NR_046000.2:n.618+107T>C
XM_006715090.1:c.492+107T>C XP_006715153.1:n.492+107T>C
XM_006715090.2:c.492+107T>C XP_006715153.1:n.492+107T>C
NM_002460.4:c.492+107T>C MANE Select NP_002451.2:n.492+107T>C
NM_001195286.2:c.492+107T>C NP_001182215.1:n.492+107T>C
NR_046000.3:n.605+107T>C