Canonical Allele Identifier: CA3404416

Gene: IRF1

Linked Data

• dbSNP Id: rs555668720
• ExAC: 5:131819713 G / A
• gnomAD v2: 5-131819713-G-A
• gnomAD v3: 5-132484021-G-A
• gnomAD v4: 5-132484021-G-A
• MyVariant Identifiers: chr5:g.131819713G>A (hg19) ; chr5:g.132484021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484021G>A , CM000667.2:g.132484021G>A	GRCh38
NC_000005.9:g.131819713G>A , CM000667.1:g.131819713G>A	GRCh37
NC_000005.8:g.131847612G>A	NCBI36
NG_011450.1:g.11753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.908C>T MANE Select	ENSP00000245414.4:p.Ala303Val
ENST00000638452.2:c.-169+34332G>A	ENSP00000492349.2:n.-169+34332G>A
ENST00000638504.1:n.206+64081G>A
ENST00000638568.2:c.-311+34332G>A	ENSP00000491158.2:n.-311+34332G>A
ENST00000639899.1:n.289+34332G>A
ENST00000640655.2:c.-637-2171G>A	ENSP00000491596.2:n.-637-2171G>A
ENST00000679743.1:c.529C>T	ENSP00000505257.1:n.529C>T
ENST00000679786.1:n.130+2536C>T
ENST00000679860.1:c.196C>T
ENST00000679921.1:c.292+2536C>T	ENSP00000505766.1:n.292+2536C>T
ENST00000679945.1:n.130+2536C>T
ENST00000679964.1:n.50+1646C>T
ENST00000680139.1:c.722C>T	ENSP00000506148.1:p.Ala241Val
ENST00000680380.1:n.136+341C>T
ENST00000680562.1:c.356C>T	ENSP00000505853.1:p.Ala119Val
ENST00000680594.1:n.136+341C>T
ENST00000680903.1:c.785C>T	ENSP00000505720.1:p.Ala262Val
ENST00000681049.1:n.50+1646C>T
ENST00000681240.1:c.158C>T	ENSP00000506034.1:p.Ala53Val
ENST00000681336.1:c.155C>T	ENSP00000505242.1:p.Ala52Val
ENST00000681462.1:c.745C>T
ENST00000681595.1:c.469C>T	ENSP00000506023.1:n.469C>T
ENST00000681634.1:n.136+341C>T
ENST00000681694.1:c.220C>T	ENSP00000506552.1:n.220C>T
ENST00000681715.1:c.406C>T	ENSP00000506545.1:n.406C>T
ENST00000245414.8:c.908C>T	ENSP00000245414.4:p.Ala303Val
ENST00000405885.6:c.908C>T	ENSP00000384406.1:p.Ala303Val
ENST00000472045.1:n.4217C>T
NM_002198.2:c.908C>T	NP_002189.1:p.Ala303Val
XM_011543378.1:c.785C>T	XP_011541680.1:p.Ala262Val
XM_011543379.1:c.656C>T	XP_011541681.1:p.Ala219Val
XR_427711.2:n.969C>T
NM_001354924.1:c.785C>T	NP_001341853.1:p.Ala262Val
NM_001354925.1:c.722C>T	NP_001341854.1:p.Ala241Val
NR_149068.1:n.969C>T
XM_011543379.2:c.656C>T	XP_011541681.1:p.Ala219Val
NM_002198.3:c.908C>T MANE Select	NP_002189.1:p.Ala303Val