Canonical Allele Identifier: CA2675210122

Gene: IRF1

Linked Data

• gnomAD v4: 5-132484119-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484119C>T , CM000667.2:g.132484119C>T	GRCh38
NC_000005.9:g.131819811C>T , CM000667.1:g.131819811C>T	GRCh37
NC_000005.8:g.131847710C>T	NCBI36
NG_011450.1:g.11655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.854-44G>A MANE Select	ENSP00000245414.4:n.854-44G>A
ENST00000613424.5:c.*75-44G>A	ENSP00000480887.1:n.*75-44G>A
ENST00000638452.2:c.-169+34430C>T	ENSP00000492349.2:n.-169+34430C>T
ENST00000638504.1:n.206+64179C>T
ENST00000638568.2:c.-311+34430C>T	ENSP00000491158.2:n.-311+34430C>T
ENST00000639899.1:n.289+34430C>T
ENST00000640655.2:c.-637-2073C>T	ENSP00000491596.2:n.-637-2073C>T
ENST00000679743.1:c.475-44G>A	ENSP00000505257.1:n.475-44G>A
ENST00000679786.1:n.130+2438G>A
ENST00000679860.1:c.142-44G>A
ENST00000679921.1:c.292+2438G>A	ENSP00000505766.1:n.292+2438G>A
ENST00000679945.1:n.130+2438G>A
ENST00000679964.1:n.50+1548G>A
ENST00000680139.1:c.668-44G>A	ENSP00000506148.1:n.668-44G>A
ENST00000680380.1:n.136+243G>A
ENST00000680562.1:c.302-44G>A	ENSP00000505853.1:n.302-44G>A
ENST00000680594.1:n.136+243G>A
ENST00000680903.1:c.731-44G>A	ENSP00000505720.1:n.731-44G>A
ENST00000681049.1:n.50+1548G>A
ENST00000681240.1:c.104-44G>A	ENSP00000506034.1:n.104-44G>A
ENST00000681336.1:c.137-80G>A	ENSP00000505242.1:n.137-80G>A
ENST00000681462.1:c.691-44G>A
ENST00000681595.1:c.415-44G>A	ENSP00000506023.1:n.415-44G>A
ENST00000681634.1:n.136+243G>A
ENST00000681694.1:c.166-44G>A	ENSP00000506552.1:n.166-44G>A
ENST00000681715.1:c.352-44G>A	ENSP00000506545.1:n.352-44G>A
ENST00000245414.8:c.854-44G>A	ENSP00000245414.4:n.854-44G>A
ENST00000405885.6:c.854-44G>A	ENSP00000384406.1:n.854-44G>A
ENST00000472045.1:n.4119G>A
ENST00000613424.4:c.*75-44G>A	ENSP00000480887.1:n.*75-44G>A
NM_002198.2:c.854-44G>A	NP_002189.1:n.854-44G>A
XM_011543378.1:c.731-44G>A	XP_011541680.1:n.731-44G>A
XM_011543379.1:c.602-44G>A	XP_011541681.1:n.602-44G>A
XR_427711.2:n.915-44G>A
NM_001354924.1:c.731-44G>A	NP_001341853.1:n.731-44G>A
NM_001354925.1:c.668-44G>A	NP_001341854.1:n.668-44G>A
NR_149068.1:n.915-44G>A
XM_011543379.2:c.602-44G>A	XP_011541681.1:n.602-44G>A
NM_002198.3:c.854-44G>A MANE Select	NP_002189.1:n.854-44G>A