Canonical Allele Identifier: CA395297895

Gene: IL4R

Linked Data

• dbSNP Id: rs1438591312
• gnomAD v3: 16-27362527-G-C
• gnomAD v4: 16-27362527-G-C
• MyVariant Identifiers: chr16:g.27373848G>C (hg19) ; chr16:g.27362527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362527G>C , CM000678.2:g.27362527G>C	GRCh38
NC_000016.9:g.27373848G>C , CM000678.1:g.27373848G>C	GRCh37
NC_000016.8:g.27281349G>C	NCBI36
NG_012086.1:g.53598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1175G>C MANE Select	ENSP00000379111.2:p.Arg392Thr
ENST00000170630.6:c.1130G>C	ENSP00000170630.3:p.Arg377Thr
ENST00000395762.6:c.1175G>C	ENSP00000379111.2:p.Arg392Thr
ENST00000543915.6:c.1175G>C	ENSP00000441667.2:p.Arg392Thr
ENST00000565352.1:c.230-1576G>C	ENSP00000461268.1:n.230-1576G>C
ENST00000568746.5:c.*1218G>C	ENSP00000455714.1:n.*1218G>C
NM_000418.3:c.1175G>C	NP_000409.1:p.Arg392Thr
NM_001257406.1:c.1175G>C	NP_001244335.1:p.Arg392Thr
NM_001257407.1:c.1130G>C	NP_001244336.1:p.Arg377Thr
NM_001257997.1:c.695G>C	NP_001244926.1:p.Arg232Thr
XM_005255308.2:c.284G>C	XP_005255365.1:p.Arg95Thr
XM_006721043.1:c.224G>C	XP_006721106.1:p.Arg75Thr
XM_011545825.1:c.1175G>C	XP_011544127.1:p.Arg392Thr
XM_011545826.1:c.1175G>C	XP_011544128.1:p.Arg392Thr
XM_011545827.1:c.1175G>C	XP_011544129.1:p.Arg392Thr
XM_011545828.1:c.908G>C	XP_011544130.1:p.Arg303Thr
XM_011545829.1:c.878G>C	XP_011544131.1:p.Arg293Thr
XM_011545830.1:c.878G>C	XP_011544132.1:p.Arg293Thr
XM_011545831.1:c.878G>C	XP_011544133.1:p.Arg293Thr
XM_011545832.1:c.878G>C	XP_011544134.1:p.Arg293Thr
XM_011545833.1:c.878G>C	XP_011544135.1:p.Arg293Thr
XM_011545834.1:c.752G>C	XP_011544136.1:p.Arg251Thr
XM_011545826.2:c.1175G>C	XP_011544128.1:p.Arg392Thr
XM_011545827.2:c.1175G>C	XP_011544129.1:p.Arg392Thr
XM_011545828.2:c.908G>C	XP_011544130.1:p.Arg303Thr
XM_011545830.2:c.878G>C	XP_011544132.1:p.Arg293Thr
XM_011545833.2:c.878G>C	XP_011544135.1:p.Arg293Thr
XM_011545834.2:c.752G>C	XP_011544136.1:p.Arg251Thr
XM_017023211.1:c.*210G>C	XP_016878700.1:n.*210G>C
NM_000418.4:c.1175G>C MANE Select	NP_000409.1:p.Arg392Thr
NM_001257406.2:c.1175G>C	NP_001244335.1:p.Arg392Thr
NM_001257407.2:c.1130G>C	NP_001244336.1:p.Arg377Thr
NM_001257997.2:c.695G>C	NP_001244926.1:p.Arg232Thr