Canonical Allele Identifier: CA3404395

Gene: IRF1

Linked Data

• dbSNP Id: rs754742558
• ExAC: 5:131819615 G / C
• gnomAD v2: 5-131819615-G-C
• gnomAD v4: 5-132483923-G-C
• MyVariant Identifiers: chr5:g.131819615G>C (hg19) ; chr5:g.132483923G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483923G>C , CM000667.2:g.132483923G>C	GRCh38
NC_000005.9:g.131819615G>C , CM000667.1:g.131819615G>C	GRCh37
NC_000005.8:g.131847514G>C	NCBI36
NG_011450.1:g.11851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*28C>G MANE Select	ENSP00000245414.4:n.*28C>G
ENST00000638452.2:c.-169+34234G>C	ENSP00000492349.2:n.-169+34234G>C
ENST00000638504.1:n.206+63983G>C
ENST00000638568.2:c.-311+34234G>C	ENSP00000491158.2:n.-311+34234G>C
ENST00000639899.1:n.289+34234G>C
ENST00000640655.2:c.-637-2269G>C	ENSP00000491596.2:n.-637-2269G>C
ENST00000679786.1:n.130+2634C>G
ENST00000679921.1:c.292+2634C>G	ENSP00000505766.1:n.292+2634C>G
ENST00000679945.1:n.130+2634C>G
ENST00000679964.1:n.50+1744C>G
ENST00000680139.1:c.*28C>G	ENSP00000506148.1:n.*28C>G
ENST00000680380.1:n.136+439C>G
ENST00000680562.1:c.454C>G	ENSP00000505853.1:n.454C>G
ENST00000680594.1:n.136+439C>G
ENST00000680903.1:c.*28C>G	ENSP00000505720.1:n.*28C>G
ENST00000681049.1:n.50+1744C>G
ENST00000681240.1:c.256C>G	ENSP00000506034.1:n.256C>G
ENST00000681336.1:c.253C>G	ENSP00000505242.1:n.253C>G
ENST00000681634.1:n.136+439C>G
ENST00000681694.1:c.318C>G	ENSP00000506552.1:n.318C>G
ENST00000245414.8:c.*28C>G	ENSP00000245414.4:n.*28C>G
ENST00000405885.6:c.*28C>G	ENSP00000384406.1:n.*28C>G
ENST00000472045.1:n.4315C>G
NM_002198.2:c.*28C>G	NP_002189.1:n.*28C>G
XM_011543378.1:c.*28C>G	XP_011541680.1:n.*28C>G
XM_011543379.1:c.*28C>G	XP_011541681.1:n.*28C>G
XR_427711.2:n.1067C>G
NM_001354924.1:c.*28C>G	NP_001341853.1:n.*28C>G
NM_001354925.1:c.*28C>G	NP_001341854.1:n.*28C>G
NR_149068.1:n.1067C>G
XM_011543379.2:c.*28C>G	XP_011541681.1:n.*28C>G
NM_002198.3:c.*28C>G MANE Select	NP_002189.1:n.*28C>G