Canonical Allele Identifier: CA2675209867

Gene: IRF1

Linked Data

• gnomAD v4: 5-132483863-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483863C>T , CM000667.2:g.132483863C>T	GRCh38
NC_000005.9:g.131819555C>T , CM000667.1:g.131819555C>T	GRCh37
NC_000005.8:g.131847454C>T	NCBI36
NG_011450.1:g.11911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*88G>A MANE Select	ENSP00000245414.4:n.*88G>A
ENST00000638452.2:c.-169+34174C>T	ENSP00000492349.2:n.-169+34174C>T
ENST00000638504.1:n.206+63923C>T
ENST00000638568.2:c.-311+34174C>T	ENSP00000491158.2:n.-311+34174C>T
ENST00000639899.1:n.289+34174C>T
ENST00000640655.2:c.-637-2329C>T	ENSP00000491596.2:n.-637-2329C>T
ENST00000679786.1:n.130+2694G>A
ENST00000679921.1:c.292+2694G>A	ENSP00000505766.1:n.292+2694G>A
ENST00000679945.1:n.130+2694G>A
ENST00000679964.1:n.50+1804G>A
ENST00000680139.1:c.*88G>A	ENSP00000506148.1:n.*88G>A
ENST00000680380.1:n.136+499G>A
ENST00000680562.1:c.514G>A	ENSP00000505853.1:n.514G>A
ENST00000680594.1:n.136+499G>A
ENST00000680903.1:c.*88G>A	ENSP00000505720.1:n.*88G>A
ENST00000681049.1:n.50+1804G>A
ENST00000681240.1:c.316G>A	ENSP00000506034.1:n.316G>A
ENST00000681336.1:c.313G>A	ENSP00000505242.1:n.313G>A
ENST00000681634.1:n.136+499G>A
ENST00000681694.1:c.378G>A	ENSP00000506552.1:n.378G>A
ENST00000245414.8:c.*88G>A	ENSP00000245414.4:n.*88G>A
ENST00000405885.6:c.*88G>A	ENSP00000384406.1:n.*88G>A
ENST00000472045.1:n.4375G>A
NM_002198.2:c.*88G>A	NP_002189.1:n.*88G>A
XM_011543378.1:c.*88G>A	XP_011541680.1:n.*88G>A
XM_011543379.1:c.*88G>A	XP_011541681.1:n.*88G>A
XR_427711.2:n.1127G>A
NM_001354924.1:c.*88G>A	NP_001341853.1:n.*88G>A
NM_001354925.1:c.*88G>A	NP_001341854.1:n.*88G>A
NR_149068.1:n.1127G>A
XM_011543379.2:c.*88G>A	XP_011541681.1:n.*88G>A
NM_002198.3:c.*88G>A MANE Select	NP_002189.1:n.*88G>A