Canonical Allele Identifier: CA127241337

Gene: IRF1

Linked Data

• dbSNP Id: rs749126418
• gnomAD v2: 5-131819306-G-C
• gnomAD v3: 5-132483614-G-C
• gnomAD v4: 5-132483614-G-C
• MyVariant Identifiers: chr5:g.131819306G>C (hg19) ; chr5:g.132483614G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483614G>C , CM000667.2:g.132483614G>C	GRCh38
NC_000005.9:g.131819306G>C , CM000667.1:g.131819306G>C	GRCh37
NC_000005.8:g.131847205G>C	NCBI36
NG_011450.1:g.12160C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*337C>G MANE Select	ENSP00000245414.4:n.*337C>G
ENST00000638452.2:c.-169+33925G>C	ENSP00000492349.2:n.-169+33925G>C
ENST00000638504.1:n.206+63674G>C
ENST00000638568.2:c.-311+33925G>C	ENSP00000491158.2:n.-311+33925G>C
ENST00000639899.1:n.289+33925G>C
ENST00000640655.2:c.-637-2578G>C	ENSP00000491596.2:n.-637-2578G>C
ENST00000679786.1:n.130+2943C>G
ENST00000679921.1:c.292+2943C>G	ENSP00000505766.1:n.292+2943C>G
ENST00000679945.1:n.130+2943C>G
ENST00000679964.1:n.50+2053C>G
ENST00000680380.1:n.136+748C>G
ENST00000680594.1:n.136+748C>G
ENST00000681049.1:n.50+2053C>G
ENST00000681634.1:n.136+748C>G
ENST00000245414.8:c.*337C>G	ENSP00000245414.4:n.*337C>G
ENST00000405885.6:c.*337C>G	ENSP00000384406.1:n.*337C>G
ENST00000472045.1:n.4624C>G
NM_002198.2:c.*337C>G	NP_002189.1:n.*337C>G
XM_011543378.1:c.*337C>G	XP_011541680.1:n.*337C>G
XM_011543379.1:c.*337C>G	XP_011541681.1:n.*337C>G
XR_427711.2:n.1376C>G
NM_001354924.1:c.*337C>G	NP_001341853.1:n.*337C>G
NM_001354925.1:c.*337C>G	NP_001341854.1:n.*337C>G
NR_149068.1:n.1376C>G
XM_011543379.2:c.*337C>G	XP_011541681.1:n.*337C>G
NM_002198.3:c.*337C>G MANE Select	NP_002189.1:n.*337C>G