Canonical Allele Identifier: CA3404394
Gene: IRF1 HGNC NCBI

Linked Data

dbSNP Id: rs56288038
ExAC: 5:131819606 G / C
gnomAD v2: 5-131819606-G-C
gnomAD v3: 5-132483914-G-C
gnomAD v4: 5-132483914-G-C
MyVariant Identifiers: chr5:g.131819606G>C (hg19) chr5:g.132483914G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132483914G>C , CM000667.2:g.132483914G>C GRCh38
NC_000005.9:g.131819606G>C , CM000667.1:g.131819606G>C GRCh37
NC_000005.8:g.131847505G>C NCBI36
NG_011450.1:g.11860C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245414.9:c.*37C>G MANE Select ENSP00000245414.4:n.*37C>G
ENST00000638452.2:c.-169+34225G>C ENSP00000492349.2:n.-169+34225G>C
ENST00000638504.1:n.206+63974G>C
ENST00000638568.2:c.-311+34225G>C ENSP00000491158.2:n.-311+34225G>C
ENST00000639899.1:n.289+34225G>C
ENST00000640655.2:c.-637-2278G>C ENSP00000491596.2:n.-637-2278G>C
ENST00000679786.1:n.130+2643C>G
ENST00000679921.1:c.292+2643C>G ENSP00000505766.1:n.292+2643C>G
ENST00000679945.1:n.130+2643C>G
ENST00000679964.1:n.50+1753C>G
ENST00000680139.1:c.*37C>G ENSP00000506148.1:n.*37C>G
ENST00000680380.1:n.136+448C>G
ENST00000680562.1:c.463C>G ENSP00000505853.1:n.463C>G
ENST00000680594.1:n.136+448C>G
ENST00000680903.1:c.*37C>G ENSP00000505720.1:n.*37C>G
ENST00000681049.1:n.50+1753C>G
ENST00000681240.1:c.265C>G ENSP00000506034.1:n.265C>G
ENST00000681336.1:c.262C>G ENSP00000505242.1:n.262C>G
ENST00000681634.1:n.136+448C>G
ENST00000681694.1:c.327C>G ENSP00000506552.1:n.327C>G
ENST00000245414.8:c.*37C>G ENSP00000245414.4:n.*37C>G
ENST00000405885.6:c.*37C>G ENSP00000384406.1:n.*37C>G
ENST00000472045.1:n.4324C>G
NM_002198.2:c.*37C>G NP_002189.1:n.*37C>G
XM_011543378.1:c.*37C>G XP_011541680.1:n.*37C>G
XM_011543379.1:c.*37C>G XP_011541681.1:n.*37C>G
XR_427711.2:n.1076C>G
NM_001354924.1:c.*37C>G NP_001341853.1:n.*37C>G
NM_001354925.1:c.*37C>G NP_001341854.1:n.*37C>G
NR_149068.1:n.1076C>G
XM_011543379.2:c.*37C>G XP_011541681.1:n.*37C>G
NM_002198.3:c.*37C>G MANE Select NP_002189.1:n.*37C>G
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