Canonical Allele Identifier: CA5783518

Gene: IRF7

Linked Data

• ClinVar Variation Id: 1559031
• ClinVar RCV Id: RCV002208803
• dbSNP Id: rs143070036
• ExAC: 11:613097 G / A
• gnomAD v2: 11-613097-G-A
• gnomAD v3: 11-613097-G-A
• gnomAD v4: 11-613097-G-A
• MyVariant Identifiers: chr11:g.613097G>A (hg19) ; chr11:g.613097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.613097G>A , CM000673.2:g.613097G>A	GRCh38
NC_000011.9:g.613097G>A , CM000673.1:g.613097G>A	GRCh37
NC_000011.8:g.603097G>A	NCBI36
NG_029106.1:g.7903C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348655.11:c.1171C>T	ENSP00000331803.9:p.Arg391Trp
ENST00000469048.6:c.*537C>T	ENSP00000434607.1:n.*537C>T
ENST00000525445.6:c.1258C>T MANE Select	ENSP00000434009.2:p.Arg420Trp
ENST00000528413.6:c.1208C>T	ENSP00000497888.1:n.1208C>T
ENST00000330243.9:c.1297C>T	ENSP00000329411.5:p.Arg433Trp
ENST00000348655.10:c.1171C>T	ENSP00000331803.9:p.Arg391Trp
ENST00000397566.5:c.1297C>T	ENSP00000380697.1:p.Arg433Trp
ENST00000397570.5:c.1210C>T	ENSP00000380700.2:p.Arg404Trp
ENST00000397574.6:c.1258C>T	ENSP00000380704.2:p.Arg420Trp
ENST00000469048.5:c.*537C>T	ENSP00000434607.1:n.*537C>T
ENST00000525445.5:c.940C>T	ENSP00000434009.1:p.Arg314Trp
ENST00000528413.5:n.373C>T
ENST00000531912.1:n.495C>T
ENST00000532326.5:c.*384C>T	ENSP00000436696.1:n.*384C>T
ENST00000533182.5:c.*622C>T	ENSP00000433903.1:n.*622C>T
NM_001572.3:c.1258C>T	NP_001563.2:p.Arg420Trp
NM_004029.2:c.1171C>T	NP_004020.1:p.Arg391Trp
NM_004031.2:c.1297C>T	NP_004022.2:p.Arg433Trp
XM_005252906.2:c.1297C>T	XP_005252963.1:p.Arg433Trp
XM_005252907.2:c.1294C>T	XP_005252964.1:p.Arg432Trp
XM_005252909.2:c.1210C>T	XP_005252966.1:p.Arg404Trp
XM_011520066.1:c.1255C>T	XP_011518368.1:p.Arg419Trp
NM_001572.4:c.1258C>T	NP_001563.2:p.Arg420Trp
NM_004029.3:c.1171C>T	NP_004020.1:p.Arg391Trp
NM_004031.3:c.1297C>T	NP_004022.2:p.Arg433Trp
XM_005252907.3:c.1294C>T	XP_005252964.1:p.Arg432Trp
XM_005252909.3:c.1210C>T	XP_005252966.1:p.Arg404Trp
XM_011520066.3:c.1255C>T	XP_011518368.1:p.Arg419Trp
XM_017017674.1:c.379C>T	XP_016873163.1:p.Arg127Trp
NM_001572.5:c.1258C>T MANE Select	NP_001563.2:p.Arg420Trp
NM_004029.4:c.1171C>T	NP_004020.1:p.Arg391Trp
NM_004031.4:c.1297C>T	NP_004022.2:p.Arg433Trp