Canonical Allele Identifier: CA577730484

Gene: IRF5

Linked Data

• dbSNP Id: rs1422546534
• gnomAD v2: 7-128578228-C-T
• gnomAD v3: 7-128938174-C-T
• gnomAD v4: 7-128938174-C-T
• MyVariant Identifiers: chr7:g.128578228C>T (hg19) ; chr7:g.128938174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128938174C>T , CM000669.2:g.128938174C>T	GRCh38
NC_000007.13:g.128578228C>T , CM000669.1:g.128578228C>T	GRCh37
NC_000007.12:g.128365464C>T	NCBI36
NG_012306.1:g.5235C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700148.1:n.52+340C>T
ENST00000357234.10:c.-12+125C>T MANE Select	ENSP00000349770.5:n.-12+125C>T
ENST00000489702.6:c.-12+340C>T	ENSP00000418037.2:n.-12+340C>T
ENST00000652142.1:n.21+125C>T
ENST00000652525.1:c.-12+480C>T	ENSP00000498293.1:n.-12+480C>T
ENST00000357234.9:c.-12+125C>T	ENSP00000349770.5:n.-12+125C>T
ENST00000402030.6:c.-12+125C>T	ENSP00000385352.2:n.-12+125C>T
ENST00000461416.1:n.69+125C>T
ENST00000464557.5:c.-158+125C>T	ENSP00000419056.1:n.-158+125C>T
ENST00000473787.5:c.-12+125C>T	ENSP00000420274.1:n.-12+125C>T
ENST00000477535.5:c.-12+125C>T	ENSP00000419950.1:n.-12+125C>T
ENST00000479582.5:c.-125+125C>T	ENSP00000417770.1:n.-125+125C>T
ENST00000488569.5:n.113+125C>T
ENST00000489702.5:c.-12+340C>T	ENSP00000418037.1:n.-12+340C>T
ENST00000613821.4:c.-12+125C>T	ENSP00000480058.1:n.-12+125C>T
NM_001098629.2:c.-12+125C>T	NP_001092099.1:n.-12+125C>T
NM_001098630.2:c.-12+125C>T	NP_001092100.1:n.-12+125C>T
NM_001242452.2:c.-12+125C>T	NP_001229381.1:n.-12+125C>T
XM_006715974.2:c.-83C>T	XP_006716037.1:n.-83C>T
XM_011516160.1:c.-12+340C>T	XP_011514462.1:n.-12+340C>T
XM_011516161.1:c.-12+125C>T	XP_011514463.1:n.-12+125C>T
XM_011516162.1:c.-12+125C>T	XP_011514464.1:n.-12+125C>T
XM_011516164.1:c.-83C>T	XP_011514466.1:n.-83C>T
NM_001347928.1:c.-12+909C>T	NP_001334857.1:n.-12+909C>T
NM_001098629.3:c.-12+125C>T MANE Select	NP_001092099.1:n.-12+125C>T
NM_001098630.3:c.-12+125C>T	NP_001092100.1:n.-12+125C>T
NM_001242452.3:c.-12+125C>T	NP_001229381.1:n.-12+125C>T
NM_001347928.2:c.-12+909C>T	NP_001334857.1:n.-12+909C>T