Canonical Allele Identifier: CA2675209674

Gene: IRF1

Linked Data

• gnomAD v4: 5-132483741-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483741G>A , CM000667.2:g.132483741G>A	GRCh38
NC_000005.9:g.131819433G>A , CM000667.1:g.131819433G>A	GRCh37
NC_000005.8:g.131847332G>A	NCBI36
NG_011450.1:g.12033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*210C>T MANE Select	ENSP00000245414.4:n.*210C>T
ENST00000638452.2:c.-169+34052G>A	ENSP00000492349.2:n.-169+34052G>A
ENST00000638504.1:n.206+63801G>A
ENST00000638568.2:c.-311+34052G>A	ENSP00000491158.2:n.-311+34052G>A
ENST00000639899.1:n.289+34052G>A
ENST00000640655.2:c.-637-2451G>A	ENSP00000491596.2:n.-637-2451G>A
ENST00000679786.1:n.130+2816C>T
ENST00000679921.1:c.292+2816C>T	ENSP00000505766.1:n.292+2816C>T
ENST00000679945.1:n.130+2816C>T
ENST00000679964.1:n.50+1926C>T
ENST00000680380.1:n.136+621C>T
ENST00000680594.1:n.136+621C>T
ENST00000681049.1:n.50+1926C>T
ENST00000681634.1:n.136+621C>T
ENST00000245414.8:c.*210C>T	ENSP00000245414.4:n.*210C>T
ENST00000405885.6:c.*210C>T	ENSP00000384406.1:n.*210C>T
ENST00000472045.1:n.4497C>T
NM_002198.2:c.*210C>T	NP_002189.1:n.*210C>T
XM_011543378.1:c.*210C>T	XP_011541680.1:n.*210C>T
XM_011543379.1:c.*210C>T	XP_011541681.1:n.*210C>T
XR_427711.2:n.1249C>T
NM_001354924.1:c.*210C>T	NP_001341853.1:n.*210C>T
NM_001354925.1:c.*210C>T	NP_001341854.1:n.*210C>T
NR_149068.1:n.1249C>T
XM_011543379.2:c.*210C>T	XP_011541681.1:n.*210C>T
NM_002198.3:c.*210C>T MANE Select	NP_002189.1:n.*210C>T