Canonical Allele Identifier: CA127241363

Gene: IRF1

Linked Data

• dbSNP Id: rs923628861
• gnomAD v3: 5-132483667-A-G
• gnomAD v4: 5-132483667-A-G
• MyVariant Identifiers: chr5:g.131819359A>G (hg19) ; chr5:g.132483667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483667A>G , CM000667.2:g.132483667A>G	GRCh38
NC_000005.9:g.131819359A>G , CM000667.1:g.131819359A>G	GRCh37
NC_000005.8:g.131847258A>G	NCBI36
NG_011450.1:g.12107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*284T>C MANE Select	ENSP00000245414.4:n.*284T>C
ENST00000638452.2:c.-169+33978A>G	ENSP00000492349.2:n.-169+33978A>G
ENST00000638504.1:n.206+63727A>G
ENST00000638568.2:c.-311+33978A>G	ENSP00000491158.2:n.-311+33978A>G
ENST00000639899.1:n.289+33978A>G
ENST00000640655.2:c.-637-2525A>G	ENSP00000491596.2:n.-637-2525A>G
ENST00000679786.1:n.130+2890T>C
ENST00000679921.1:c.292+2890T>C	ENSP00000505766.1:n.292+2890T>C
ENST00000679945.1:n.130+2890T>C
ENST00000679964.1:n.50+2000T>C
ENST00000680380.1:n.136+695T>C
ENST00000680594.1:n.136+695T>C
ENST00000681049.1:n.50+2000T>C
ENST00000681634.1:n.136+695T>C
ENST00000245414.8:c.*284T>C	ENSP00000245414.4:n.*284T>C
ENST00000405885.6:c.*284T>C	ENSP00000384406.1:n.*284T>C
ENST00000472045.1:n.4571T>C
NM_002198.2:c.*284T>C	NP_002189.1:n.*284T>C
XM_011543378.1:c.*284T>C	XP_011541680.1:n.*284T>C
XM_011543379.1:c.*284T>C	XP_011541681.1:n.*284T>C
XR_427711.2:n.1323T>C
NM_001354924.1:c.*284T>C	NP_001341853.1:n.*284T>C
NM_001354925.1:c.*284T>C	NP_001341854.1:n.*284T>C
NR_149068.1:n.1323T>C
XM_011543379.2:c.*284T>C	XP_011541681.1:n.*284T>C
NM_002198.3:c.*284T>C MANE Select	NP_002189.1:n.*284T>C