Canonical Allele Identifier: CA803995307

Gene: IRF1

Linked Data

• dbSNP Id: rs1299465622
• gnomAD v3: 5-132484140-C-A
• gnomAD v4: 5-132484140-C-A
• MyVariant Identifiers: chr5:g.131819832C>A (hg19) ; chr5:g.132484140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484140C>A , CM000667.2:g.132484140C>A	GRCh38
NC_000005.9:g.131819832C>A , CM000667.1:g.131819832C>A	GRCh37
NC_000005.8:g.131847731C>A	NCBI36
NG_011450.1:g.11634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.854-65G>T MANE Select	ENSP00000245414.4:n.854-65G>T
ENST00000613424.5:c.*75-65G>T	ENSP00000480887.1:n.*75-65G>T
ENST00000638452.2:c.-169+34451C>A	ENSP00000492349.2:n.-169+34451C>A
ENST00000638504.1:n.206+64200C>A
ENST00000638568.2:c.-311+34451C>A	ENSP00000491158.2:n.-311+34451C>A
ENST00000639899.1:n.289+34451C>A
ENST00000640655.2:c.-637-2052C>A	ENSP00000491596.2:n.-637-2052C>A
ENST00000679743.1:c.475-65G>T	ENSP00000505257.1:n.475-65G>T
ENST00000679786.1:n.130+2417G>T
ENST00000679860.1:c.142-65G>T
ENST00000679921.1:c.292+2417G>T	ENSP00000505766.1:n.292+2417G>T
ENST00000679945.1:n.130+2417G>T
ENST00000679964.1:n.50+1527G>T
ENST00000680139.1:c.668-65G>T	ENSP00000506148.1:n.668-65G>T
ENST00000680380.1:n.136+222G>T
ENST00000680562.1:c.302-65G>T	ENSP00000505853.1:n.302-65G>T
ENST00000680594.1:n.136+222G>T
ENST00000680903.1:c.731-65G>T	ENSP00000505720.1:n.731-65G>T
ENST00000681049.1:n.50+1527G>T
ENST00000681240.1:c.104-65G>T	ENSP00000506034.1:n.104-65G>T
ENST00000681336.1:c.137-101G>T	ENSP00000505242.1:n.137-101G>T
ENST00000681462.1:c.691-65G>T
ENST00000681595.1:c.415-65G>T	ENSP00000506023.1:n.415-65G>T
ENST00000681634.1:n.136+222G>T
ENST00000681694.1:c.166-65G>T	ENSP00000506552.1:n.166-65G>T
ENST00000681715.1:c.352-65G>T	ENSP00000506545.1:n.352-65G>T
ENST00000245414.8:c.854-65G>T	ENSP00000245414.4:n.854-65G>T
ENST00000405885.6:c.854-65G>T	ENSP00000384406.1:n.854-65G>T
ENST00000472045.1:n.4098G>T
ENST00000613424.4:c.*75-65G>T	ENSP00000480887.1:n.*75-65G>T
NM_002198.2:c.854-65G>T	NP_002189.1:n.854-65G>T
XM_011543378.1:c.731-65G>T	XP_011541680.1:n.731-65G>T
XM_011543379.1:c.602-65G>T	XP_011541681.1:n.602-65G>T
XR_427711.2:n.915-65G>T
NM_001354924.1:c.731-65G>T	NP_001341853.1:n.731-65G>T
NM_001354925.1:c.668-65G>T	NP_001341854.1:n.668-65G>T
NR_149068.1:n.915-65G>T
XM_011543379.2:c.602-65G>T	XP_011541681.1:n.602-65G>T
NM_002198.3:c.854-65G>T MANE Select	NP_002189.1:n.854-65G>T