Canonical Allele Identifier: CA378978442
Community Standard Title: NM_001572.5(IRF7):c.1230C>A (p.Phe410Leu)
Gene: IRF7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.613213G>T , CM000673.2:g.613213G>T GRCh38
NC_000011.9:g.613213G>T , CM000673.1:g.613213G>T GRCh37
NC_000011.8:g.603213G>T NCBI36
NG_029106.1:g.7787C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001572.5:c.1230C>A MANE Select NP_001563.2:p.Phe410Leu
ENST00000525445.6:c.1230C>A MANE Select ENSP00000434009.2:p.Phe410Leu
NM_001572.3:c.1230C>A NP_001563.2:p.Phe410Leu
NM_001572.4:c.1230C>A NP_001563.2:p.Phe410Leu
NM_004029.2:c.1143C>A NP_004020.1:p.Phe381Leu
NM_004029.3:c.1143C>A NP_004020.1:p.Phe381Leu
NM_004029.4:c.1143C>A NP_004020.1:p.Phe381Leu
NM_004031.2:c.1269C>A NP_004022.2:p.Phe423Leu
NM_004031.3:c.1269C>A NP_004022.2:p.Phe423Leu
NM_004031.4:c.1269C>A NP_004022.2:p.Phe423Leu
ENST00000330243.9:c.1269C>A ENSP00000329411.5:p.Phe423Leu
ENST00000348655.10:c.1143C>A ENSP00000331803.9:p.Phe381Leu
ENST00000348655.11:c.1143C>A ENSP00000331803.9:p.Phe381Leu
ENST00000397566.5:c.1269C>A ENSP00000380697.1:p.Phe423Leu
ENST00000397570.5:c.1182C>A ENSP00000380700.2:p.Phe394Leu
ENST00000397574.6:c.1230C>A ENSP00000380704.2:p.Phe410Leu
ENST00000469048.5:c.*509C>A ENSP00000434607.1:n.*509C>A
ENST00000469048.6:c.*509C>A ENSP00000434607.1:n.*509C>A
ENST00000525445.5:c.912C>A ENSP00000434009.1:p.Phe304Leu
ENST00000528413.5:n.338-81C>A
ENST00000528413.6:c.1180C>A ENSP00000497888.1:n.1180C>A
ENST00000531912.1:n.379C>A
ENST00000532326.5:c.*356C>A ENSP00000436696.1:n.*356C>A
ENST00000533182.5:c.*594C>A ENSP00000433903.1:n.*594C>A
XM_005252906.2:c.1269C>A XP_005252963.1:p.Phe423Leu
XM_005252907.2:c.1266C>A XP_005252964.1:p.Phe422Leu
XM_005252907.3:c.1266C>A XP_005252964.1:p.Phe422Leu
XM_005252909.2:c.1182C>A XP_005252966.1:p.Phe394Leu
XM_005252909.3:c.1182C>A XP_005252966.1:p.Phe394Leu
XM_011520066.1:c.1227C>A XP_011518368.1:p.Phe409Leu
XM_011520066.3:c.1227C>A XP_011518368.1:p.Phe409Leu
XM_017017674.1:c.351C>A XP_016873163.1:p.Phe117Leu