Canonical Allele Identifier: CA7974523

Gene: IL4R

Linked Data

• dbSNP Id: rs759552353
• ExAC: 16:27373919 G / A
• gnomAD v2: 16-27373919-G-A
• gnomAD v3: 16-27362598-G-A
• gnomAD v4: 16-27362598-G-A
• MyVariant Identifiers: chr16:g.27373919G>A (hg19) ; chr16:g.27362598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362598G>A , CM000678.2:g.27362598G>A	GRCh38
NC_000016.9:g.27373919G>A , CM000678.1:g.27373919G>A	GRCh37
NC_000016.8:g.27281420G>A	NCBI36
NG_012086.1:g.53669G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1246G>A MANE Select	ENSP00000379111.2:p.Gly416Arg
ENST00000170630.6:c.1201G>A	ENSP00000170630.3:p.Gly401Arg
ENST00000395762.6:c.1246G>A	ENSP00000379111.2:p.Gly416Arg
ENST00000543915.6:c.1246G>A	ENSP00000441667.2:p.Gly416Arg
ENST00000565352.1:c.230-1505G>A	ENSP00000461268.1:n.230-1505G>A
ENST00000568746.5:c.*1289G>A	ENSP00000455714.1:n.*1289G>A
NM_000418.3:c.1246G>A	NP_000409.1:p.Gly416Arg
NM_001257406.1:c.1246G>A	NP_001244335.1:p.Gly416Arg
NM_001257407.1:c.1201G>A	NP_001244336.1:p.Gly401Arg
NM_001257997.1:c.766G>A	NP_001244926.1:p.Gly256Arg
XM_005255308.2:c.355G>A	XP_005255365.1:p.Gly119Arg
XM_006721043.1:c.295G>A	XP_006721106.1:p.Gly99Arg
XM_011545825.1:c.1246G>A	XP_011544127.1:p.Gly416Arg
XM_011545826.1:c.1246G>A	XP_011544128.1:p.Gly416Arg
XM_011545827.1:c.1246G>A	XP_011544129.1:p.Gly416Arg
XM_011545828.1:c.979G>A	XP_011544130.1:p.Gly327Arg
XM_011545829.1:c.949G>A	XP_011544131.1:p.Gly317Arg
XM_011545830.1:c.949G>A	XP_011544132.1:p.Gly317Arg
XM_011545831.1:c.949G>A	XP_011544133.1:p.Gly317Arg
XM_011545832.1:c.949G>A	XP_011544134.1:p.Gly317Arg
XM_011545833.1:c.949G>A	XP_011544135.1:p.Gly317Arg
XM_011545834.1:c.823G>A	XP_011544136.1:p.Gly275Arg
XM_011545826.2:c.1246G>A	XP_011544128.1:p.Gly416Arg
XM_011545827.2:c.1246G>A	XP_011544129.1:p.Gly416Arg
XM_011545828.2:c.979G>A	XP_011544130.1:p.Gly327Arg
XM_011545830.2:c.949G>A	XP_011544132.1:p.Gly317Arg
XM_011545833.2:c.949G>A	XP_011544135.1:p.Gly317Arg
XM_011545834.2:c.823G>A	XP_011544136.1:p.Gly275Arg
XM_017023211.1:c.*281G>A	XP_016878700.1:n.*281G>A
NM_000418.4:c.1246G>A MANE Select	NP_000409.1:p.Gly416Arg
NM_001257406.2:c.1246G>A	NP_001244335.1:p.Gly416Arg
NM_001257407.2:c.1201G>A	NP_001244336.1:p.Gly401Arg
NM_001257997.2:c.766G>A	NP_001244926.1:p.Gly256Arg