Canonical Allele Identifier: CA494470142

Gene: IL4R

Linked Data

• dbSNP Id: rs1389225742
• gnomAD v2: 16-27374134-G-A
• gnomAD v4: 16-27362813-G-A
• COSMIC: COSM3988365
• MyVariant Identifiers: chr16:g.27374134G>A (hg19) ; chr16:g.27362813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362813G>A , CM000678.2:g.27362813G>A	GRCh38
NC_000016.9:g.27374134G>A , CM000678.1:g.27374134G>A	GRCh37
NC_000016.8:g.27281635G>A	NCBI36
NG_012086.1:g.53884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1461G>A MANE Select	ENSP00000379111.2:p.Thr487=
ENST00000170630.6:c.1416G>A	ENSP00000170630.3:p.Thr472=
ENST00000395762.6:c.1461G>A	ENSP00000379111.2:p.Thr487=
ENST00000543915.6:c.1461G>A	ENSP00000441667.2:p.Thr487=
ENST00000565352.1:c.230-1290G>A	ENSP00000461268.1:n.230-1290G>A
ENST00000568746.5:c.*1504G>A	ENSP00000455714.1:n.*1504G>A
NM_000418.3:c.1461G>A	NP_000409.1:p.Thr487=
NM_001257406.1:c.1461G>A	NP_001244335.1:p.Thr487=
NM_001257407.1:c.1416G>A	NP_001244336.1:p.Thr472=
NM_001257997.1:c.981G>A	NP_001244926.1:p.Thr327=
XM_005255308.2:c.570G>A	XP_005255365.1:p.Thr190=
XM_006721043.1:c.510G>A	XP_006721106.1:p.Thr170=
XM_011545825.1:c.1461G>A	XP_011544127.1:p.Thr487=
XM_011545826.1:c.1461G>A	XP_011544128.1:p.Thr487=
XM_011545827.1:c.1461G>A	XP_011544129.1:p.Thr487=
XM_011545828.1:c.1194G>A	XP_011544130.1:p.Thr398=
XM_011545829.1:c.1164G>A	XP_011544131.1:p.Thr388=
XM_011545830.1:c.1164G>A	XP_011544132.1:p.Thr388=
XM_011545831.1:c.1164G>A	XP_011544133.1:p.Thr388=
XM_011545832.1:c.1164G>A	XP_011544134.1:p.Thr388=
XM_011545833.1:c.1164G>A	XP_011544135.1:p.Thr388=
XM_011545834.1:c.1038G>A	XP_011544136.1:p.Thr346=
XM_011545826.2:c.1461G>A	XP_011544128.1:p.Thr487=
XM_011545827.2:c.1461G>A	XP_011544129.1:p.Thr487=
XM_011545828.2:c.1194G>A	XP_011544130.1:p.Thr398=
XM_011545830.2:c.1164G>A	XP_011544132.1:p.Thr388=
XM_011545833.2:c.1164G>A	XP_011544135.1:p.Thr388=
XM_011545834.2:c.1038G>A	XP_011544136.1:p.Thr346=
XM_017023211.1:c.*496G>A	XP_016878700.1:n.*496G>A
NM_000418.4:c.1461G>A MANE Select	NP_000409.1:p.Thr487=
NM_001257406.2:c.1461G>A	NP_001244335.1:p.Thr487=
NM_001257407.2:c.1416G>A	NP_001244336.1:p.Thr472=
NM_001257997.2:c.981G>A	NP_001244926.1:p.Thr327=