Canonical Allele Identifier: CA360814042

Gene: IRF1

Linked Data

• MyVariant Identifiers: chr5:g.131819765C>G (hg19) ; chr5:g.132484073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484073C>G , CM000667.2:g.132484073C>G	GRCh38
NC_000005.9:g.131819765C>G , CM000667.1:g.131819765C>G	GRCh37
NC_000005.8:g.131847664C>G	NCBI36
NG_011450.1:g.11701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.856G>C MANE Select	ENSP00000245414.4:p.Asp286His
ENST00000613424.5:c.*77G>C	ENSP00000480887.1:n.*77G>C
ENST00000638452.2:c.-169+34384C>G	ENSP00000492349.2:n.-169+34384C>G
ENST00000638504.1:n.206+64133C>G
ENST00000638568.2:c.-311+34384C>G	ENSP00000491158.2:n.-311+34384C>G
ENST00000639899.1:n.289+34384C>G
ENST00000640655.2:c.-637-2119C>G	ENSP00000491596.2:n.-637-2119C>G
ENST00000679743.1:c.477G>C	ENSP00000505257.1:n.477G>C
ENST00000679786.1:n.130+2484G>C
ENST00000679860.1:c.144G>C
ENST00000679921.1:c.292+2484G>C	ENSP00000505766.1:n.292+2484G>C
ENST00000679945.1:n.130+2484G>C
ENST00000679964.1:n.50+1594G>C
ENST00000680139.1:c.670G>C	ENSP00000506148.1:p.Asp224His
ENST00000680380.1:n.136+289G>C
ENST00000680562.1:c.304G>C	ENSP00000505853.1:p.Asp102His
ENST00000680594.1:n.136+289G>C
ENST00000680903.1:c.733G>C	ENSP00000505720.1:p.Asp245His
ENST00000681049.1:n.50+1594G>C
ENST00000681240.1:c.106G>C	ENSP00000506034.1:p.Asp36His
ENST00000681336.1:c.137-34G>C	ENSP00000505242.1:n.137-34G>C
ENST00000681462.1:c.693G>C
ENST00000681595.1:c.417G>C	ENSP00000506023.1:n.417G>C
ENST00000681634.1:n.136+289G>C
ENST00000681694.1:c.168G>C	ENSP00000506552.1:p.Gly56=
ENST00000681715.1:c.354G>C	ENSP00000506545.1:n.354G>C
ENST00000245414.8:c.856G>C	ENSP00000245414.4:p.Asp286His
ENST00000405885.6:c.856G>C	ENSP00000384406.1:p.Asp286His
ENST00000472045.1:n.4165G>C
ENST00000613424.4:c.*77G>C	ENSP00000480887.1:n.*77G>C
NM_002198.2:c.856G>C	NP_002189.1:p.Asp286His
XM_011543378.1:c.733G>C	XP_011541680.1:p.Asp245His
XM_011543379.1:c.604G>C	XP_011541681.1:p.Asp202His
XR_427711.2:n.917G>C
NM_001354924.1:c.733G>C	NP_001341853.1:p.Asp245His
NM_001354925.1:c.670G>C	NP_001341854.1:p.Asp224His
NR_149068.1:n.917G>C
XM_011543379.2:c.604G>C	XP_011541681.1:p.Asp202His
NM_002198.3:c.856G>C MANE Select	NP_002189.1:p.Asp286His