Canonical Allele Identifier: CA360813986

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819738A>C (hg19) ; chr5:g.132484046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484046A>C , CM000667.2:g.132484046A>C	GRCh38
NC_000005.9:g.131819738A>C , CM000667.1:g.131819738A>C	GRCh37
NC_000005.8:g.131847637A>C	NCBI36
NG_011450.1:g.11728T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.883T>G MANE Select	ENSP00000245414.4:p.Phe295Val
ENST00000638452.2:c.-169+34357A>C	ENSP00000492349.2:n.-169+34357A>C
ENST00000638504.1:n.206+64106A>C
ENST00000638568.2:c.-311+34357A>C	ENSP00000491158.2:n.-311+34357A>C
ENST00000639899.1:n.289+34357A>C
ENST00000640655.2:c.-637-2146A>C	ENSP00000491596.2:n.-637-2146A>C
ENST00000679743.1:c.504T>G	ENSP00000505257.1:n.504T>G
ENST00000679786.1:n.130+2511T>G
ENST00000679860.1:c.171T>G
ENST00000679921.1:c.292+2511T>G	ENSP00000505766.1:n.292+2511T>G
ENST00000679945.1:n.130+2511T>G
ENST00000679964.1:n.50+1621T>G
ENST00000680139.1:c.697T>G	ENSP00000506148.1:p.Phe233Val
ENST00000680380.1:n.136+316T>G
ENST00000680562.1:c.331T>G	ENSP00000505853.1:p.Phe111Val
ENST00000680594.1:n.136+316T>G
ENST00000680903.1:c.760T>G	ENSP00000505720.1:p.Phe254Val
ENST00000681049.1:n.50+1621T>G
ENST00000681240.1:c.133T>G	ENSP00000506034.1:p.Phe45Val
ENST00000681336.1:c.137-7T>G	ENSP00000505242.1:n.137-7T>G
ENST00000681462.1:c.720T>G
ENST00000681595.1:c.444T>G	ENSP00000506023.1:n.444T>G
ENST00000681634.1:n.136+316T>G
ENST00000681694.1:c.195T>G	ENSP00000506552.1:n.195T>G
ENST00000681715.1:c.381T>G	ENSP00000506545.1:n.381T>G
ENST00000245414.8:c.883T>G	ENSP00000245414.4:p.Phe295Val
ENST00000405885.6:c.883T>G	ENSP00000384406.1:p.Phe295Val
ENST00000472045.1:n.4192T>G
NM_002198.2:c.883T>G	NP_002189.1:p.Phe295Val
XM_011543378.1:c.760T>G	XP_011541680.1:p.Phe254Val
XM_011543379.1:c.631T>G	XP_011541681.1:p.Phe211Val
XR_427711.2:n.944T>G
NM_001354924.1:c.760T>G	NP_001341853.1:p.Phe254Val
NM_001354925.1:c.697T>G	NP_001341854.1:p.Phe233Val
NR_149068.1:n.944T>G
XM_011543379.2:c.631T>G	XP_011541681.1:p.Phe211Val
NM_002198.3:c.883T>G MANE Select	NP_002189.1:p.Phe295Val