Canonical Allele Identifier: CA5783519

Gene: IRF7

Linked Data

• ClinVar Variation Id: 1053300
• ClinVar RCV Id: RCV001361628
• dbSNP Id: rs142523418
• ExAC: 11:613102 C / T
• gnomAD v2: 11-613102-C-T
• gnomAD v3: 11-613102-C-T
• gnomAD v4: 11-613102-C-T
• MyVariant Identifiers: chr11:g.613102C>T (hg19) ; chr11:g.613102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.613102C>T , CM000673.2:g.613102C>T	GRCh38
NC_000011.9:g.613102C>T , CM000673.1:g.613102C>T	GRCh37
NC_000011.8:g.603102C>T	NCBI36
NG_029106.1:g.7898G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348655.11:c.1166G>A	ENSP00000331803.9:p.Arg389Gln
ENST00000469048.6:c.*532G>A	ENSP00000434607.1:n.*532G>A
ENST00000525445.6:c.1253G>A MANE Select	ENSP00000434009.2:p.Arg418Gln
ENST00000528413.6:c.1203G>A	ENSP00000497888.1:n.1203G>A
ENST00000330243.9:c.1292G>A	ENSP00000329411.5:p.Arg431Gln
ENST00000348655.10:c.1166G>A	ENSP00000331803.9:p.Arg389Gln
ENST00000397566.5:c.1292G>A	ENSP00000380697.1:p.Arg431Gln
ENST00000397570.5:c.1205G>A	ENSP00000380700.2:p.Arg402Gln
ENST00000397574.6:c.1253G>A	ENSP00000380704.2:p.Arg418Gln
ENST00000469048.5:c.*532G>A	ENSP00000434607.1:n.*532G>A
ENST00000525445.5:c.935G>A	ENSP00000434009.1:p.Arg312Gln
ENST00000528413.5:n.368G>A
ENST00000531912.1:n.490G>A
ENST00000532326.5:c.*379G>A	ENSP00000436696.1:n.*379G>A
ENST00000533182.5:c.*617G>A	ENSP00000433903.1:n.*617G>A
NM_001572.3:c.1253G>A	NP_001563.2:p.Arg418Gln
NM_004029.2:c.1166G>A	NP_004020.1:p.Arg389Gln
NM_004031.2:c.1292G>A	NP_004022.2:p.Arg431Gln
XM_005252906.2:c.1292G>A	XP_005252963.1:p.Arg431Gln
XM_005252907.2:c.1289G>A	XP_005252964.1:p.Arg430Gln
XM_005252909.2:c.1205G>A	XP_005252966.1:p.Arg402Gln
XM_011520066.1:c.1250G>A	XP_011518368.1:p.Arg417Gln
NM_001572.4:c.1253G>A	NP_001563.2:p.Arg418Gln
NM_004029.3:c.1166G>A	NP_004020.1:p.Arg389Gln
NM_004031.3:c.1292G>A	NP_004022.2:p.Arg431Gln
XM_005252907.3:c.1289G>A	XP_005252964.1:p.Arg430Gln
XM_005252909.3:c.1205G>A	XP_005252966.1:p.Arg402Gln
XM_011520066.3:c.1250G>A	XP_011518368.1:p.Arg417Gln
XM_017017674.1:c.374G>A	XP_016873163.1:p.Arg125Gln
NM_001572.5:c.1253G>A MANE Select	NP_001563.2:p.Arg418Gln
NM_004029.4:c.1166G>A	NP_004020.1:p.Arg389Gln
NM_004031.4:c.1292G>A	NP_004022.2:p.Arg431Gln