Canonical Allele Identifier: CA457847420

Gene: IRF5

Linked Data

• dbSNP Id: rs1247413134
• gnomAD v3: 7-128948732-T-C
• gnomAD v4: 7-128948732-T-C
• MyVariant Identifiers: chr7:g.128588786T>C (hg19) ; chr7:g.128948732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128948732T>C , CM000669.2:g.128948732T>C	GRCh38
NC_000007.13:g.128588786T>C , CM000669.1:g.128588786T>C	GRCh37
NC_000007.12:g.128376022T>C	NCBI36
NG_012306.1:g.15793T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700148.1:n.1695T>C
ENST00000700151.1:n.3961T>C
ENST00000700152.1:n.3501T>C
ENST00000700153.1:n.2875T>C
ENST00000700154.1:n.1039T>C
ENST00000357234.10:c.1459T>C MANE Select	ENSP00000349770.5:p.Leu487=
ENST00000489702.6:c.1459T>C	ENSP00000418037.2:p.Leu487=
ENST00000249375.8:c.1411T>C	ENSP00000249375.4:p.Leu471=
ENST00000357234.9:c.1459T>C	ENSP00000349770.5:p.Leu487=
ENST00000402030.6:c.1411T>C	ENSP00000385352.2:p.Leu471=
ENST00000465603.5:c.*939T>C	ENSP00000418534.1:n.*939T>C
ENST00000473745.5:c.1411T>C	ENSP00000419149.1:p.Leu471=
ENST00000477535.5:c.1153T>C	ENSP00000419950.1:p.Leu385=
ENST00000619830.1:c.*909T>C	ENSP00000483292.1:n.*909T>C
NM_001098627.3:c.1411T>C	NP_001092097.2:p.Leu471=
NM_001098629.2:c.1459T>C	NP_001092099.1:p.Leu487=
NM_001098630.2:c.1411T>C	NP_001092100.1:p.Leu471=
NM_001242452.2:c.1153T>C	NP_001229381.1:p.Leu385=
NM_032643.4:c.1411T>C	NP_116032.1:p.Leu471=
XM_005250317.2:c.1459T>C	XP_005250374.1:p.Leu487=
XM_006715974.2:c.1459T>C	XP_006716037.1:p.Leu487=
XM_011516158.1:c.1459T>C	XP_011514460.1:p.Leu487=
XM_011516159.1:c.1459T>C	XP_011514461.1:p.Leu487=
XM_011516160.1:c.1459T>C	XP_011514462.1:p.Leu487=
XM_011516161.1:c.1429T>C	XP_011514463.1:p.Leu477=
XM_011516162.1:c.1381T>C	XP_011514464.1:p.Leu461=
XM_011516163.1:c.1381T>C	XP_011514465.1:p.Leu461=
XM_011516164.1:c.1381T>C	XP_011514466.1:p.Leu461=
NM_001347928.1:c.1459T>C	NP_001334857.1:p.Leu487=
NM_001364314.1:c.1459T>C	NP_001351243.1:p.Leu487=
XM_011516158.3:c.1459T>C	XP_011514460.1:p.Leu487=
XM_011516159.3:c.1459T>C	XP_011514461.1:p.Leu487=
NM_001098629.3:c.1459T>C MANE Select	NP_001092099.1:p.Leu487=
NM_001098630.3:c.1411T>C	NP_001092100.1:p.Leu471=
NM_001242452.3:c.1153T>C	NP_001229381.1:p.Leu385=
NM_001347928.2:c.1459T>C	NP_001334857.1:p.Leu487=
NM_001364314.2:c.1459T>C	NP_001351243.1:p.Leu487=
NM_001098627.4:c.1411T>C	NP_001092097.2:p.Leu471=
NM_032643.5:c.1411T>C	NP_116032.1:p.Leu471=