Canonical Allele Identifier: CA12010477
Gene: IRF1 HGNC NCBI
COSMIC:
COSN14832802 (not active)
MyVariant.info:
GRCh38 chr5:g.132491188G>T
GRCh37 chr5:g.131826880G>T
gnomAD v2:
5:131826880 G / T
gnomAD v3:
5:132491188 G / T
gnomAD v4:
chr5-132491188-G-T
Joint Max Group AF 0.66075128 (NFE)
Genomes Max Group AF 0.66075128 (NFE)
dbSNP:
2706384
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132491188G>T , CM000667.2:g.132491188G>T GRCh38
NC_000005.9:g.131826880G>T , CM000667.1:g.131826880G>T GRCh37
NC_000005.8:g.131854779G>T NCBI36
NG_011450.1:g.4586C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463784.6:n.30+166C>A
ENST00000638452.2:c.-169+41499G>T ENSP00000492349.2:n.-169+41499G>T
ENST00000638504.1:n.207-68096G>T
ENST00000638568.2:c.-311+41499G>T ENSP00000491158.2:n.-311+41499G>T
ENST00000639899.1:n.289+41499G>T
ENST00000640655.2:c.-169+4528G>T ENSP00000491596.2:n.-169+4528G>T
ENST00000679522.1:n.76+323C>A
ENST00000680796.1:c.-5-1705C>A ENSP00000506572.1:n.-5-1705C>A
ENST00000680848.1:n.76+323C>A
ENST00000681584.1:c.-5-1705C>A ENSP00000505448.1:n.-5-1705C>A
ENST00000681603.1:n.76+323C>A
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