Canonical Allele Identifier: CA446358235

Gene: IRF1

Linked Data

• gnomAD v4: 5-132483957-T-C
• MyVariant Identifiers: chr5:g.131819649T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483957T>C , CM000667.2:g.132483957T>C	GRCh38
NC_000005.9:g.131819649T>C , CM000667.1:g.131819649T>C	GRCh37
NC_000005.8:g.131847548T>C	NCBI36
NG_011450.1:g.11817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.972A>G MANE Select	ENSP00000245414.4:p.Ala324=
ENST00000638452.2:c.-169+34268T>C	ENSP00000492349.2:n.-169+34268T>C
ENST00000638504.1:n.206+64017T>C
ENST00000638568.2:c.-311+34268T>C	ENSP00000491158.2:n.-311+34268T>C
ENST00000639899.1:n.289+34268T>C
ENST00000640655.2:c.-637-2235T>C	ENSP00000491596.2:n.-637-2235T>C
ENST00000679743.1:c.593A>G	ENSP00000505257.1:n.593A>G
ENST00000679786.1:n.130+2600A>G
ENST00000679921.1:c.292+2600A>G	ENSP00000505766.1:n.292+2600A>G
ENST00000679945.1:n.130+2600A>G
ENST00000679964.1:n.50+1710A>G
ENST00000680139.1:c.786A>G	ENSP00000506148.1:p.Ala262=
ENST00000680380.1:n.136+405A>G
ENST00000680562.1:c.420A>G	ENSP00000505853.1:p.Ala140=
ENST00000680594.1:n.136+405A>G
ENST00000680903.1:c.849A>G	ENSP00000505720.1:p.Ala283=
ENST00000681049.1:n.50+1710A>G
ENST00000681240.1:c.222A>G	ENSP00000506034.1:p.Ala74=
ENST00000681336.1:c.219A>G	ENSP00000505242.1:p.Ala73=
ENST00000681595.1:c.533A>G	ENSP00000506023.1:n.533A>G
ENST00000681634.1:n.136+405A>G
ENST00000681694.1:c.284A>G	ENSP00000506552.1:n.284A>G
ENST00000681715.1:c.470A>G	ENSP00000506545.1:n.470A>G
ENST00000245414.8:c.972A>G	ENSP00000245414.4:p.Ala324=
ENST00000405885.6:c.972A>G	ENSP00000384406.1:p.Ala324=
ENST00000472045.1:n.4281A>G
NM_002198.2:c.972A>G	NP_002189.1:p.Ala324=
XM_011543378.1:c.849A>G	XP_011541680.1:p.Ala283=
XM_011543379.1:c.720A>G	XP_011541681.1:p.Ala240=
XR_427711.2:n.1033A>G
NM_001354924.1:c.849A>G	NP_001341853.1:p.Ala283=
NM_001354925.1:c.786A>G	NP_001341854.1:p.Ala262=
NR_149068.1:n.1033A>G
XM_011543379.2:c.720A>G	XP_011541681.1:p.Ala240=
NM_002198.3:c.972A>G MANE Select	NP_002189.1:p.Ala324=