Canonical Allele Identifier: CA565013942
Gene: IRF4 HGNC NCBI

Linked Data

dbSNP Id: rs1056591681
gnomAD v2: 6-396386-A-G
gnomAD v3: 6-396386-A-G
gnomAD v4: 6-396386-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396386A>G , CM000668.2:g.396386A>G GRCh38
NC_000006.11:g.396386A>G , CM000668.1:g.396386A>G GRCh37
NC_000006.10:g.341386A>G NCBI36
NG_027728.1:g.9648A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000493114.2:c.492+451A>G ENSP00000436094.2:n.492+451A>G
ENST00000696871.1:c.492+451A>G ENSP00000512940.1:n.492+451A>G
ENST00000696872.1:c.552+451A>G ENSP00000512941.1:n.552+451A>G
ENST00000696873.1:c.57+451A>G ENSP00000512942.1:n.57+451A>G
ENST00000380956.9:c.492+451A>G MANE Select ENSP00000370343.4:n.492+451A>G
ENST00000380956.8:c.492+451A>G ENSP00000370343.4:n.492+451A>G
ENST00000493114.1:c.492+451A>G ENSP00000436094.1:n.492+451A>G
ENST00000495137.5:n.318+451A>G
NM_001195286.1:c.492+451A>G NP_001182215.1:n.492+451A>G
NM_002460.3:c.492+451A>G NP_002451.2:n.492+451A>G
NR_046000.2:n.618+451A>G
XM_006715090.1:c.492+451A>G XP_006715153.1:n.492+451A>G
XM_006715090.2:c.492+451A>G XP_006715153.1:n.492+451A>G
NM_002460.4:c.492+451A>G MANE Select NP_002451.2:n.492+451A>G
NM_001195286.2:c.492+451A>G NP_001182215.1:n.492+451A>G
NR_046000.3:n.605+451A>G