Canonical Allele Identifier: CA3404393

Gene: IRF1

Linked Data

• dbSNP Id: rs376659584
• ExAC: 5:131819600 G / A
• gnomAD v2: 5-131819600-G-A
• gnomAD v3: 5-132483908-G-A
• gnomAD v4: 5-132483908-G-A
• MyVariant Identifiers: chr5:g.131819600G>A (hg19) ; chr5:g.132483908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483908G>A , CM000667.2:g.132483908G>A	GRCh38
NC_000005.9:g.131819600G>A , CM000667.1:g.131819600G>A	GRCh37
NC_000005.8:g.131847499G>A	NCBI36
NG_011450.1:g.11866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*43C>T MANE Select	ENSP00000245414.4:n.*43C>T
ENST00000638452.2:c.-169+34219G>A	ENSP00000492349.2:n.-169+34219G>A
ENST00000638504.1:n.206+63968G>A
ENST00000638568.2:c.-311+34219G>A	ENSP00000491158.2:n.-311+34219G>A
ENST00000639899.1:n.289+34219G>A
ENST00000640655.2:c.-637-2284G>A	ENSP00000491596.2:n.-637-2284G>A
ENST00000679786.1:n.130+2649C>T
ENST00000679921.1:c.292+2649C>T	ENSP00000505766.1:n.292+2649C>T
ENST00000679945.1:n.130+2649C>T
ENST00000679964.1:n.50+1759C>T
ENST00000680139.1:c.*43C>T	ENSP00000506148.1:n.*43C>T
ENST00000680380.1:n.136+454C>T
ENST00000680562.1:c.469C>T	ENSP00000505853.1:n.469C>T
ENST00000680594.1:n.136+454C>T
ENST00000680903.1:c.*43C>T	ENSP00000505720.1:n.*43C>T
ENST00000681049.1:n.50+1759C>T
ENST00000681240.1:c.271C>T	ENSP00000506034.1:n.271C>T
ENST00000681336.1:c.268C>T	ENSP00000505242.1:n.268C>T
ENST00000681634.1:n.136+454C>T
ENST00000681694.1:c.333C>T	ENSP00000506552.1:n.333C>T
ENST00000245414.8:c.*43C>T	ENSP00000245414.4:n.*43C>T
ENST00000405885.6:c.*43C>T	ENSP00000384406.1:n.*43C>T
ENST00000472045.1:n.4330C>T
NM_002198.2:c.*43C>T	NP_002189.1:n.*43C>T
XM_011543378.1:c.*43C>T	XP_011541680.1:n.*43C>T
XM_011543379.1:c.*43C>T	XP_011541681.1:n.*43C>T
XR_427711.2:n.1082C>T
NM_001354924.1:c.*43C>T	NP_001341853.1:n.*43C>T
NM_001354925.1:c.*43C>T	NP_001341854.1:n.*43C>T
NR_149068.1:n.1082C>T
XM_011543379.2:c.*43C>T	XP_011541681.1:n.*43C>T
NM_002198.3:c.*43C>T MANE Select	NP_002189.1:n.*43C>T