Canonical Allele Identifier: CA446358216

Gene: IRF1

Linked Data

• dbSNP Id: rs1754450293
• gnomAD v4: 5-132483894-C-T
• MyVariant Identifiers: chr5:g.131819586C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483894C>T , CM000667.2:g.132483894C>T	GRCh38
NC_000005.9:g.131819586C>T , CM000667.1:g.131819586C>T	GRCh37
NC_000005.8:g.131847485C>T	NCBI36
NG_011450.1:g.11880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*57G>A MANE Select	ENSP00000245414.4:n.*57G>A
ENST00000638452.2:c.-169+34205C>T	ENSP00000492349.2:n.-169+34205C>T
ENST00000638504.1:n.206+63954C>T
ENST00000638568.2:c.-311+34205C>T	ENSP00000491158.2:n.-311+34205C>T
ENST00000639899.1:n.289+34205C>T
ENST00000640655.2:c.-637-2298C>T	ENSP00000491596.2:n.-637-2298C>T
ENST00000679786.1:n.130+2663G>A
ENST00000679921.1:c.292+2663G>A	ENSP00000505766.1:n.292+2663G>A
ENST00000679945.1:n.130+2663G>A
ENST00000679964.1:n.50+1773G>A
ENST00000680139.1:c.*57G>A	ENSP00000506148.1:n.*57G>A
ENST00000680380.1:n.136+468G>A
ENST00000680562.1:c.483G>A	ENSP00000505853.1:n.483G>A
ENST00000680594.1:n.136+468G>A
ENST00000680903.1:c.*57G>A	ENSP00000505720.1:n.*57G>A
ENST00000681049.1:n.50+1773G>A
ENST00000681240.1:c.285G>A	ENSP00000506034.1:n.285G>A
ENST00000681336.1:c.282G>A	ENSP00000505242.1:n.282G>A
ENST00000681634.1:n.136+468G>A
ENST00000681694.1:c.347G>A	ENSP00000506552.1:n.347G>A
ENST00000245414.8:c.*57G>A	ENSP00000245414.4:n.*57G>A
ENST00000405885.6:c.*57G>A	ENSP00000384406.1:n.*57G>A
ENST00000472045.1:n.4344G>A
NM_002198.2:c.*57G>A	NP_002189.1:n.*57G>A
XM_011543378.1:c.*57G>A	XP_011541680.1:n.*57G>A
XM_011543379.1:c.*57G>A	XP_011541681.1:n.*57G>A
XR_427711.2:n.1096G>A
NM_001354924.1:c.*57G>A	NP_001341853.1:n.*57G>A
NM_001354925.1:c.*57G>A	NP_001341854.1:n.*57G>A
NR_149068.1:n.1096G>A
XM_011543379.2:c.*57G>A	XP_011541681.1:n.*57G>A
NM_002198.3:c.*57G>A MANE Select	NP_002189.1:n.*57G>A