Canonical Allele Identifier: CA378978278
Gene: IRF7 HGNC NCBI

Linked Data

dbSNP Id: rs1856537210
gnomAD v3: 11-613099-G-A
gnomAD v4: 11-613099-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.613099G>A , CM000673.2:g.613099G>A GRCh38
NC_000011.9:g.613099G>A , CM000673.1:g.613099G>A GRCh37
NC_000011.8:g.603099G>A NCBI36
NG_029106.1:g.7901C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348655.11:c.1169C>T ENSP00000331803.9:p.Ala390Val
ENST00000469048.6:c.*535C>T ENSP00000434607.1:n.*535C>T
ENST00000525445.6:c.1256C>T MANE Select ENSP00000434009.2:p.Ala419Val
ENST00000528413.6:c.1206C>T ENSP00000497888.1:n.1206C>T
ENST00000330243.9:c.1295C>T ENSP00000329411.5:p.Ala432Val
ENST00000348655.10:c.1169C>T ENSP00000331803.9:p.Ala390Val
ENST00000397566.5:c.1295C>T ENSP00000380697.1:p.Ala432Val
ENST00000397570.5:c.1208C>T ENSP00000380700.2:p.Ala403Val
ENST00000397574.6:c.1256C>T ENSP00000380704.2:p.Ala419Val
ENST00000469048.5:c.*535C>T ENSP00000434607.1:n.*535C>T
ENST00000525445.5:c.938C>T ENSP00000434009.1:p.Ala313Val
ENST00000528413.5:n.371C>T
ENST00000531912.1:n.493C>T
ENST00000532326.5:c.*382C>T ENSP00000436696.1:n.*382C>T
ENST00000533182.5:c.*620C>T ENSP00000433903.1:n.*620C>T
NM_001572.3:c.1256C>T NP_001563.2:p.Ala419Val
NM_004029.2:c.1169C>T NP_004020.1:p.Ala390Val
NM_004031.2:c.1295C>T NP_004022.2:p.Ala432Val
XM_005252906.2:c.1295C>T XP_005252963.1:p.Ala432Val
XM_005252907.2:c.1292C>T XP_005252964.1:p.Ala431Val
XM_005252909.2:c.1208C>T XP_005252966.1:p.Ala403Val
XM_011520066.1:c.1253C>T XP_011518368.1:p.Ala418Val
NM_001572.4:c.1256C>T NP_001563.2:p.Ala419Val
NM_004029.3:c.1169C>T NP_004020.1:p.Ala390Val
NM_004031.3:c.1295C>T NP_004022.2:p.Ala432Val
XM_005252907.3:c.1292C>T XP_005252964.1:p.Ala431Val
XM_005252909.3:c.1208C>T XP_005252966.1:p.Ala403Val
XM_011520066.3:c.1253C>T XP_011518368.1:p.Ala418Val
XM_017017674.1:c.377C>T XP_016873163.1:p.Ala126Val
NM_001572.5:c.1256C>T MANE Select NP_001563.2:p.Ala419Val
NM_004029.4:c.1169C>T NP_004020.1:p.Ala390Val
NM_004031.4:c.1295C>T NP_004022.2:p.Ala432Val