Canonical Allele Identifier: CA565013949
Gene: IRF4 HGNC NCBI

Linked Data

dbSNP Id: rs1429457209
gnomAD v2: 6-396415-T-C
gnomAD v3: 6-396415-T-C
gnomAD v4: 6-396415-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396415T>C , CM000668.2:g.396415T>C GRCh38
NC_000006.11:g.396415T>C , CM000668.1:g.396415T>C GRCh37
NC_000006.10:g.341415T>C NCBI36
NG_027728.1:g.9677T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000493114.2:c.492+480T>C ENSP00000436094.2:n.492+480T>C
ENST00000696871.1:c.492+480T>C ENSP00000512940.1:n.492+480T>C
ENST00000696872.1:c.552+480T>C ENSP00000512941.1:n.552+480T>C
ENST00000696873.1:c.57+480T>C ENSP00000512942.1:n.57+480T>C
ENST00000380956.9:c.492+480T>C MANE Select ENSP00000370343.4:n.492+480T>C
ENST00000380956.8:c.492+480T>C ENSP00000370343.4:n.492+480T>C
ENST00000493114.1:c.492+480T>C ENSP00000436094.1:n.492+480T>C
ENST00000495137.5:n.318+480T>C
NM_001195286.1:c.492+480T>C NP_001182215.1:n.492+480T>C
NM_002460.3:c.492+480T>C NP_002451.2:n.492+480T>C
NR_046000.2:n.618+480T>C
XM_006715090.1:c.492+480T>C XP_006715153.1:n.492+480T>C
XM_006715090.2:c.492+480T>C XP_006715153.1:n.492+480T>C
NM_002460.4:c.492+480T>C MANE Select NP_002451.2:n.492+480T>C
NM_001195286.2:c.492+480T>C NP_001182215.1:n.492+480T>C
NR_046000.3:n.605+480T>C