Canonical Allele Identifier: CA378977202
Gene: IRF7 HGNC NCBI

Linked Data

dbSNP Id: rs377416331
gnomAD v2: 11-613096-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.613096C>G , CM000673.2:g.613096C>G GRCh38
NC_000011.9:g.613096C>G , CM000673.1:g.613096C>G GRCh37
NC_000011.8:g.603096C>G NCBI36
NG_029106.1:g.7904G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348655.11:c.1172G>C ENSP00000331803.9:p.Arg391Pro
ENST00000469048.6:c.*538G>C ENSP00000434607.1:n.*538G>C
ENST00000525445.6:c.1259G>C MANE Select ENSP00000434009.2:p.Arg420Pro
ENST00000528413.6:c.1209G>C ENSP00000497888.1:n.1209G>C
ENST00000330243.9:c.1298G>C ENSP00000329411.5:p.Arg433Pro
ENST00000348655.10:c.1172G>C ENSP00000331803.9:p.Arg391Pro
ENST00000397566.5:c.1298G>C ENSP00000380697.1:p.Arg433Pro
ENST00000397570.5:c.1211G>C ENSP00000380700.2:p.Arg404Pro
ENST00000397574.6:c.1259G>C ENSP00000380704.2:p.Arg420Pro
ENST00000469048.5:c.*538G>C ENSP00000434607.1:n.*538G>C
ENST00000525445.5:c.941G>C ENSP00000434009.1:p.Arg314Pro
ENST00000528413.5:n.374G>C
ENST00000531912.1:n.496G>C
ENST00000532326.5:c.*385G>C ENSP00000436696.1:n.*385G>C
ENST00000533182.5:c.*623G>C ENSP00000433903.1:n.*623G>C
NM_001572.3:c.1259G>C NP_001563.2:p.Arg420Pro
NM_004029.2:c.1172G>C NP_004020.1:p.Arg391Pro
NM_004031.2:c.1298G>C NP_004022.2:p.Arg433Pro
XM_005252906.2:c.1298G>C XP_005252963.1:p.Arg433Pro
XM_005252907.2:c.1295G>C XP_005252964.1:p.Arg432Pro
XM_005252909.2:c.1211G>C XP_005252966.1:p.Arg404Pro
XM_011520066.1:c.1256G>C XP_011518368.1:p.Arg419Pro
NM_001572.4:c.1259G>C NP_001563.2:p.Arg420Pro
NM_004029.3:c.1172G>C NP_004020.1:p.Arg391Pro
NM_004031.3:c.1298G>C NP_004022.2:p.Arg433Pro
XM_005252907.3:c.1295G>C XP_005252964.1:p.Arg432Pro
XM_005252909.3:c.1211G>C XP_005252966.1:p.Arg404Pro
XM_011520066.3:c.1256G>C XP_011518368.1:p.Arg419Pro
XM_017017674.1:c.380G>C XP_016873163.1:p.Arg127Pro
NM_001572.5:c.1259G>C MANE Select NP_001563.2:p.Arg420Pro
NM_004029.4:c.1172G>C NP_004020.1:p.Arg391Pro
NM_004031.4:c.1298G>C NP_004022.2:p.Arg433Pro