Canonical Allele Identifier: CA360813996

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819744G>C (hg19) ; chr5:g.132484052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484052G>C , CM000667.2:g.132484052G>C	GRCh38
NC_000005.9:g.131819744G>C , CM000667.1:g.131819744G>C	GRCh37
NC_000005.8:g.131847643G>C	NCBI36
NG_011450.1:g.11722C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.877C>G MANE Select	ENSP00000245414.4:p.Arg293Gly
ENST00000613424.5:c.*98C>G	ENSP00000480887.1:n.*98C>G
ENST00000638452.2:c.-169+34363G>C	ENSP00000492349.2:n.-169+34363G>C
ENST00000638504.1:n.206+64112G>C
ENST00000638568.2:c.-311+34363G>C	ENSP00000491158.2:n.-311+34363G>C
ENST00000639899.1:n.289+34363G>C
ENST00000640655.2:c.-637-2140G>C	ENSP00000491596.2:n.-637-2140G>C
ENST00000679743.1:c.498C>G	ENSP00000505257.1:n.498C>G
ENST00000679786.1:n.130+2505C>G
ENST00000679860.1:c.165C>G
ENST00000679921.1:c.292+2505C>G	ENSP00000505766.1:n.292+2505C>G
ENST00000679945.1:n.130+2505C>G
ENST00000679964.1:n.50+1615C>G
ENST00000680139.1:c.691C>G	ENSP00000506148.1:p.Arg231Gly
ENST00000680380.1:n.136+310C>G
ENST00000680562.1:c.325C>G	ENSP00000505853.1:p.Arg109Gly
ENST00000680594.1:n.136+310C>G
ENST00000680903.1:c.754C>G	ENSP00000505720.1:p.Arg252Gly
ENST00000681049.1:n.50+1615C>G
ENST00000681240.1:c.127C>G	ENSP00000506034.1:p.Arg43Gly
ENST00000681336.1:c.137-13C>G	ENSP00000505242.1:n.137-13C>G
ENST00000681462.1:c.714C>G
ENST00000681595.1:c.438C>G	ENSP00000506023.1:n.438C>G
ENST00000681634.1:n.136+310C>G
ENST00000681694.1:c.189C>G	ENSP00000506552.1:n.189C>G
ENST00000681715.1:c.375C>G	ENSP00000506545.1:n.375C>G
ENST00000245414.8:c.877C>G	ENSP00000245414.4:p.Arg293Gly
ENST00000405885.6:c.877C>G	ENSP00000384406.1:p.Arg293Gly
ENST00000472045.1:n.4186C>G
ENST00000613424.4:c.*98C>G	ENSP00000480887.1:n.*98C>G
NM_002198.2:c.877C>G	NP_002189.1:p.Arg293Gly
XM_011543378.1:c.754C>G	XP_011541680.1:p.Arg252Gly
XM_011543379.1:c.625C>G	XP_011541681.1:p.Arg209Gly
XR_427711.2:n.938C>G
NM_001354924.1:c.754C>G	NP_001341853.1:p.Arg252Gly
NM_001354925.1:c.691C>G	NP_001341854.1:p.Arg231Gly
NR_149068.1:n.938C>G
XM_011543379.2:c.625C>G	XP_011541681.1:p.Arg209Gly
NM_002198.3:c.877C>G MANE Select	NP_002189.1:p.Arg293Gly