Canonical Allele Identifier: CA360813950
Gene: IRF1 HGNC NCBI

Linked Data

dbSNP Id: rs1488306732

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132484030T>C , CM000667.2:g.132484030T>C GRCh38
NC_000005.9:g.131819722T>C , CM000667.1:g.131819722T>C GRCh37
NC_000005.8:g.131847621T>C NCBI36
NG_011450.1:g.11744A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245414.9:c.899A>G MANE Select ENSP00000245414.4:p.Asn300Ser
ENST00000638452.2:c.-169+34341T>C ENSP00000492349.2:n.-169+34341T>C
ENST00000638504.1:n.206+64090T>C
ENST00000638568.2:c.-311+34341T>C ENSP00000491158.2:n.-311+34341T>C
ENST00000639899.1:n.289+34341T>C
ENST00000640655.2:c.-637-2162T>C ENSP00000491596.2:n.-637-2162T>C
ENST00000679743.1:c.520A>G ENSP00000505257.1:n.520A>G
ENST00000679786.1:n.130+2527A>G
ENST00000679860.1:c.187A>G
ENST00000679921.1:c.292+2527A>G ENSP00000505766.1:n.292+2527A>G
ENST00000679945.1:n.130+2527A>G
ENST00000679964.1:n.50+1637A>G
ENST00000680139.1:c.713A>G ENSP00000506148.1:p.Asn238Ser
ENST00000680380.1:n.136+332A>G
ENST00000680562.1:c.347A>G ENSP00000505853.1:p.Asn116Ser
ENST00000680594.1:n.136+332A>G
ENST00000680903.1:c.776A>G ENSP00000505720.1:p.Asn259Ser
ENST00000681049.1:n.50+1637A>G
ENST00000681240.1:c.149A>G ENSP00000506034.1:p.Asn50Ser
ENST00000681336.1:c.146A>G ENSP00000505242.1:p.Asn49Ser
ENST00000681462.1:c.736A>G
ENST00000681595.1:c.460A>G ENSP00000506023.1:n.460A>G
ENST00000681634.1:n.136+332A>G
ENST00000681694.1:c.211A>G ENSP00000506552.1:n.211A>G
ENST00000681715.1:c.397A>G ENSP00000506545.1:n.397A>G
ENST00000245414.8:c.899A>G ENSP00000245414.4:p.Asn300Ser
ENST00000405885.6:c.899A>G ENSP00000384406.1:p.Asn300Ser
ENST00000472045.1:n.4208A>G
NM_002198.2:c.899A>G NP_002189.1:p.Asn300Ser
XM_011543378.1:c.776A>G XP_011541680.1:p.Asn259Ser
XM_011543379.1:c.647A>G XP_011541681.1:p.Asn216Ser
XR_427711.2:n.960A>G
NM_001354924.1:c.776A>G NP_001341853.1:p.Asn259Ser
NM_001354925.1:c.713A>G NP_001341854.1:p.Asn238Ser
NR_149068.1:n.960A>G
XM_011543379.2:c.647A>G XP_011541681.1:p.Asn216Ser
NM_002198.3:c.899A>G MANE Select NP_002189.1:p.Asn300Ser