Canonical Allele Identifier: CA127241805

Gene: IRF1

Linked Data

• dbSNP Id: rs917219763
• gnomAD v2: 5-131819850-A-G
• gnomAD v3: 5-132484158-A-G
• gnomAD v4: 5-132484158-A-G
• MyVariant Identifiers: chr5:g.131819850A>G (hg19) ; chr5:g.132484158A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484158A>G , CM000667.2:g.132484158A>G	GRCh38
NC_000005.9:g.131819850A>G , CM000667.1:g.131819850A>G	GRCh37
NC_000005.8:g.131847749A>G	NCBI36
NG_011450.1:g.11616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.854-83T>C MANE Select	ENSP00000245414.4:n.854-83T>C
ENST00000613424.5:c.*75-83T>C	ENSP00000480887.1:n.*75-83T>C
ENST00000638452.2:c.-169+34469A>G	ENSP00000492349.2:n.-169+34469A>G
ENST00000638504.1:n.206+64218A>G
ENST00000638568.2:c.-311+34469A>G	ENSP00000491158.2:n.-311+34469A>G
ENST00000639899.1:n.289+34469A>G
ENST00000640655.2:c.-637-2034A>G	ENSP00000491596.2:n.-637-2034A>G
ENST00000679743.1:c.475-83T>C	ENSP00000505257.1:n.475-83T>C
ENST00000679786.1:n.130+2399T>C
ENST00000679860.1:c.142-83T>C
ENST00000679921.1:c.292+2399T>C	ENSP00000505766.1:n.292+2399T>C
ENST00000679945.1:n.130+2399T>C
ENST00000679964.1:n.50+1509T>C
ENST00000680139.1:c.668-83T>C	ENSP00000506148.1:n.668-83T>C
ENST00000680380.1:n.136+204T>C
ENST00000680562.1:c.302-83T>C	ENSP00000505853.1:n.302-83T>C
ENST00000680594.1:n.136+204T>C
ENST00000680903.1:c.731-83T>C	ENSP00000505720.1:n.731-83T>C
ENST00000681049.1:n.50+1509T>C
ENST00000681240.1:c.104-83T>C	ENSP00000506034.1:n.104-83T>C
ENST00000681336.1:c.137-119T>C	ENSP00000505242.1:n.137-119T>C
ENST00000681462.1:c.691-83T>C
ENST00000681595.1:c.415-83T>C	ENSP00000506023.1:n.415-83T>C
ENST00000681634.1:n.136+204T>C
ENST00000681694.1:c.166-83T>C	ENSP00000506552.1:n.166-83T>C
ENST00000681715.1:c.352-83T>C	ENSP00000506545.1:n.352-83T>C
ENST00000245414.8:c.854-83T>C	ENSP00000245414.4:n.854-83T>C
ENST00000405885.6:c.854-83T>C	ENSP00000384406.1:n.854-83T>C
ENST00000472045.1:n.4080T>C
ENST00000613424.4:c.*75-83T>C	ENSP00000480887.1:n.*75-83T>C
NM_002198.2:c.854-83T>C	NP_002189.1:n.854-83T>C
XM_011543378.1:c.731-83T>C	XP_011541680.1:n.731-83T>C
XM_011543379.1:c.602-83T>C	XP_011541681.1:n.602-83T>C
XR_427711.2:n.915-83T>C
NM_001354924.1:c.731-83T>C	NP_001341853.1:n.731-83T>C
NM_001354925.1:c.668-83T>C	NP_001341854.1:n.668-83T>C
NR_149068.1:n.915-83T>C
XM_011543379.2:c.602-83T>C	XP_011541681.1:n.602-83T>C
NM_002198.3:c.854-83T>C MANE Select	NP_002189.1:n.854-83T>C