Canonical Allele Identifier: CA369241234

Gene: IRF5

Linked Data

• gnomAD v4: 7-128948768-C-A
• MyVariant Identifiers: chr7:g.128588822C>A (hg19) ; chr7:g.128948768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128948768C>A , CM000669.2:g.128948768C>A	GRCh38
NC_000007.13:g.128588822C>A , CM000669.1:g.128588822C>A	GRCh37
NC_000007.12:g.128376058C>A	NCBI36
NG_012306.1:g.15829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700148.1:n.1731C>A
ENST00000700151.1:n.3997C>A
ENST00000700152.1:n.3537C>A
ENST00000700153.1:n.2911C>A
ENST00000700154.1:n.1075C>A
ENST00000357234.10:c.1495C>A MANE Select	ENSP00000349770.5:p.Leu499Ile
ENST00000489702.6:c.1495C>A	ENSP00000418037.2:p.Leu499Ile
ENST00000249375.8:c.1447C>A	ENSP00000249375.4:p.Leu483Ile
ENST00000357234.9:c.1495C>A	ENSP00000349770.5:p.Leu499Ile
ENST00000402030.6:c.1447C>A	ENSP00000385352.2:p.Leu483Ile
ENST00000465603.5:c.*975C>A	ENSP00000418534.1:n.*975C>A
ENST00000473745.5:c.1447C>A	ENSP00000419149.1:p.Leu483Ile
ENST00000477535.5:c.1189C>A	ENSP00000419950.1:p.Leu397Ile
ENST00000619830.1:c.*945C>A	ENSP00000483292.1:n.*945C>A
NM_001098627.3:c.1447C>A	NP_001092097.2:p.Leu483Ile
NM_001098629.2:c.1495C>A	NP_001092099.1:p.Leu499Ile
NM_001098630.2:c.1447C>A	NP_001092100.1:p.Leu483Ile
NM_001242452.2:c.1189C>A	NP_001229381.1:p.Leu397Ile
NM_032643.4:c.1447C>A	NP_116032.1:p.Leu483Ile
XM_005250317.2:c.1495C>A	XP_005250374.1:p.Leu499Ile
XM_006715974.2:c.1495C>A	XP_006716037.1:p.Leu499Ile
XM_011516158.1:c.1495C>A	XP_011514460.1:p.Leu499Ile
XM_011516159.1:c.1495C>A	XP_011514461.1:p.Leu499Ile
XM_011516160.1:c.1495C>A	XP_011514462.1:p.Leu499Ile
XM_011516161.1:c.1465C>A	XP_011514463.1:p.Leu489Ile
XM_011516162.1:c.1417C>A	XP_011514464.1:p.Leu473Ile
XM_011516163.1:c.1417C>A	XP_011514465.1:p.Leu473Ile
XM_011516164.1:c.1417C>A	XP_011514466.1:p.Leu473Ile
NM_001347928.1:c.1495C>A	NP_001334857.1:p.Leu499Ile
NM_001364314.1:c.1495C>A	NP_001351243.1:p.Leu499Ile
XM_011516158.3:c.1495C>A	XP_011514460.1:p.Leu499Ile
XM_011516159.3:c.1495C>A	XP_011514461.1:p.Leu499Ile
NM_001098629.3:c.1495C>A MANE Select	NP_001092099.1:p.Leu499Ile
NM_001098630.3:c.1447C>A	NP_001092100.1:p.Leu483Ile
NM_001242452.3:c.1189C>A	NP_001229381.1:p.Leu397Ile
NM_001347928.2:c.1495C>A	NP_001334857.1:p.Leu499Ile
NM_001364314.2:c.1495C>A	NP_001351243.1:p.Leu499Ile
NM_001098627.4:c.1447C>A	NP_001092097.2:p.Leu483Ile
NM_032643.5:c.1447C>A	NP_116032.1:p.Leu483Ile