Canonical Allele Identifier: CA5783918
Gene: IRF7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1170388
dbSNP Id: rs1061502
gnomAD v2: 11-614318-T-C
gnomAD v3: 11-614318-T-C
gnomAD v4: 11-614318-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.614318T>C , CM000673.2:g.614318T>C GRCh38
NC_000011.9:g.614318T>C , CM000673.1:g.614318T>C GRCh37
NC_000011.8:g.604318T>C NCBI36
NG_029106.1:g.6682A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348655.11:c.535A>G ENSP00000331803.9:p.Lys179Glu
ENST00000469048.6:c.453+158A>G ENSP00000434607.1:n.453+158A>G
ENST00000525445.6:c.535A>G MANE Select ENSP00000434009.2:p.Lys179Glu
ENST00000528413.6:c.485A>G ENSP00000497888.1:n.485A>G
ENST00000330243.9:c.574A>G ENSP00000329411.5:p.Lys192Glu
ENST00000348655.10:c.535A>G ENSP00000331803.9:p.Lys179Glu
ENST00000397566.5:c.574A>G ENSP00000380697.1:p.Lys192Glu
ENST00000397570.5:c.574A>G ENSP00000380700.2:p.Lys192Glu
ENST00000397574.6:c.535A>G ENSP00000380704.2:p.Lys179Glu
ENST00000469048.5:c.453+158A>G ENSP00000434607.1:n.453+158A>G
ENST00000525445.5:c.217A>G ENSP00000434009.1:p.Lys73Glu
ENST00000525750.1:n.80A>G
ENST00000527160.1:n.308A>G
ENST00000532096.1:n.821A>G
ENST00000532326.5:c.450+158A>G ENSP00000436696.1:n.450+158A>G
ENST00000532788.1:c.492+158A>G ENSP00000432403.1:n.492+158A>G
ENST00000533182.5:c.453+158A>G ENSP00000433903.1:n.453+158A>G
NM_001572.3:c.535A>G NP_001563.2:p.Lys179Glu
NM_004029.2:c.535A>G NP_004020.1:p.Lys179Glu
NM_004031.2:c.574A>G NP_004022.2:p.Lys192Glu
XM_005252906.2:c.574A>G XP_005252963.1:p.Lys192Glu
XM_005252907.2:c.571A>G XP_005252964.1:p.Lys191Glu
XM_005252909.2:c.574A>G XP_005252966.1:p.Lys192Glu
XM_011520066.1:c.532A>G XP_011518368.1:p.Lys178Glu
NM_001572.4:c.535A>G NP_001563.2:p.Lys179Glu
NM_004029.3:c.535A>G NP_004020.1:p.Lys179Glu
NM_004031.3:c.574A>G NP_004022.2:p.Lys192Glu
XM_005252907.3:c.571A>G XP_005252964.1:p.Lys191Glu
XM_005252909.3:c.574A>G XP_005252966.1:p.Lys192Glu
XM_011520066.3:c.532A>G XP_011518368.1:p.Lys178Glu
XM_017017674.1:c.-114+158A>G XP_016873163.1:n.-114+158A>G
NM_001572.5:c.535A>G MANE Select NP_001563.2:p.Lys179Glu
NM_004029.4:c.535A>G NP_004020.1:p.Lys179Glu
NM_004031.4:c.574A>G NP_004022.2:p.Lys192Glu