Canonical Allele Identifier: CA446358670

Gene: IRF1

Linked Data

• dbSNP Id: rs1754455121
• gnomAD v3: 5-132484074-C-T
• gnomAD v4: 5-132484074-C-T
• MyVariant Identifiers: chr5:g.131819766C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484074C>T , CM000667.2:g.132484074C>T	GRCh38
NC_000005.9:g.131819766C>T , CM000667.1:g.131819766C>T	GRCh37
NC_000005.8:g.131847665C>T	NCBI36
NG_011450.1:g.11700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.855G>A MANE Select	ENSP00000245414.4:p.Gly285=
ENST00000613424.5:c.*76G>A	ENSP00000480887.1:n.*76G>A
ENST00000638452.2:c.-169+34385C>T	ENSP00000492349.2:n.-169+34385C>T
ENST00000638504.1:n.206+64134C>T
ENST00000638568.2:c.-311+34385C>T	ENSP00000491158.2:n.-311+34385C>T
ENST00000639899.1:n.289+34385C>T
ENST00000640655.2:c.-637-2118C>T	ENSP00000491596.2:n.-637-2118C>T
ENST00000679743.1:c.476G>A	ENSP00000505257.1:n.476G>A
ENST00000679786.1:n.130+2483G>A
ENST00000679860.1:c.143G>A
ENST00000679921.1:c.292+2483G>A	ENSP00000505766.1:n.292+2483G>A
ENST00000679945.1:n.130+2483G>A
ENST00000679964.1:n.50+1593G>A
ENST00000680139.1:c.669G>A	ENSP00000506148.1:p.Gly223=
ENST00000680380.1:n.136+288G>A
ENST00000680562.1:c.303G>A	ENSP00000505853.1:p.Gly101=
ENST00000680594.1:n.136+288G>A
ENST00000680903.1:c.732G>A	ENSP00000505720.1:p.Gly244=
ENST00000681049.1:n.50+1593G>A
ENST00000681240.1:c.105G>A	ENSP00000506034.1:p.Trp35Ter
ENST00000681336.1:c.137-35G>A	ENSP00000505242.1:n.137-35G>A
ENST00000681462.1:c.692G>A
ENST00000681595.1:c.416G>A	ENSP00000506023.1:n.416G>A
ENST00000681634.1:n.136+288G>A
ENST00000681694.1:c.167G>A	ENSP00000506552.1:p.Gly56Glu
ENST00000681715.1:c.353G>A	ENSP00000506545.1:n.353G>A
ENST00000245414.8:c.855G>A	ENSP00000245414.4:p.Gly285=
ENST00000405885.6:c.855G>A	ENSP00000384406.1:p.Gly285=
ENST00000472045.1:n.4164G>A
ENST00000613424.4:c.*76G>A	ENSP00000480887.1:n.*76G>A
NM_002198.2:c.855G>A	NP_002189.1:p.Gly285=
XM_011543378.1:c.732G>A	XP_011541680.1:p.Gly244=
XM_011543379.1:c.603G>A	XP_011541681.1:p.Gly201=
XR_427711.2:n.916G>A
NM_001354924.1:c.732G>A	NP_001341853.1:p.Gly244=
NM_001354925.1:c.669G>A	NP_001341854.1:p.Gly223=
NR_149068.1:n.916G>A
XM_011543379.2:c.603G>A	XP_011541681.1:p.Gly201=
NM_002198.3:c.855G>A MANE Select	NP_002189.1:p.Gly285=