Canonical Allele Identifier: CA348296302

Gene: IL1RN

Linked Data

• ClinVar Variation Id: 1055014
• ClinVar RCV Id: RCV001363615
• dbSNP Id: rs188868709
• gnomAD v3: 2-113132827-G-A
• gnomAD v4: 2-113132827-G-A
• COSMIC: COSM3406803 ; COSM3406804
• MyVariant Identifiers: chr2:g.113890404G>A (hg19) ; chr2:g.113132827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113132827G>A , CM000664.2:g.113132827G>A	GRCh38
NC_000002.11:g.113890404G>A , CM000664.1:g.113890404G>A	GRCh37
NC_000002.10:g.113606875G>A	NCBI36
NG_021240.1:g.19935G>A , LRG_188:g.19935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.388G>A	ENSP00000387210.1:p.Glu130Lys
ENST00000696879.1:c.388G>A	ENSP00000512947.1:p.Glu130Lys
ENST00000696880.1:c.388G>A	ENSP00000512948.1:p.Glu130Lys
ENST00000696881.1:c.388G>A	ENSP00000512949.1:p.Glu130Lys
ENST00000696882.1:c.*260G>A	ENSP00000512950.1:n.*260G>A
ENST00000696883.1:n.435G>A
ENST00000409930.4:c.490G>A MANE Select	ENSP00000387173.3:p.Glu164Lys
ENST00000259206.9:c.499G>A	ENSP00000259206.5:p.Glu167Lys
ENST00000354115.6:c.436G>A	ENSP00000329072.3:p.Glu146Lys
ENST00000361779.7:c.388G>A	ENSP00000354816.3:p.Glu130Lys
ENST00000409052.5:c.388G>A	ENSP00000387210.1:p.Glu130Lys
ENST00000409930.3:c.490G>A	ENSP00000387173.3:p.Glu164Lys
NM_000577.4:c.436G>A	NP_000568.1:p.Glu146Lys
NM_173841.2:c.499G>A , LRG_188t1:c.499G>A	NP_776213.1:p.Glu167Lys
NM_173842.2:c.490G>A	NP_776214.1:p.Glu164Lys
NM_173843.2:c.388G>A	NP_776215.1:p.Glu130Lys
XM_005263661.3:c.388G>A	XP_005263718.1:p.Glu130Lys
XM_006712497.2:c.388G>A	XP_006712560.1:p.Glu130Lys
XM_011511121.1:c.388G>A	XP_011509423.1:p.Glu130Lys
NM_001318914.1:c.388G>A	NP_001305843.1:p.Glu130Lys
XM_005263661.4:c.388G>A	XP_005263718.1:p.Glu130Lys
NM_000577.5:c.436G>A	NP_000568.1:p.Glu146Lys
NM_001318914.2:c.388G>A	NP_001305843.1:p.Glu130Lys
NM_173842.3:c.490G>A MANE Select	NP_776214.1:p.Glu164Lys
NM_173843.3:c.388G>A	NP_776215.1:p.Glu130Lys
NM_001379360.1:c.388G>A	NP_001366289.1:p.Glu130Lys
NM_173841.3:c.499G>A	NP_776213.1:p.Glu167Lys