Canonical Allele Identifier: CA494470715

Gene: IL4R

Linked Data

• dbSNP Id: rs1429238553
• gnomAD v2: 16-27374128-A-C
• gnomAD v3: 16-27362807-A-C
• gnomAD v4: 16-27362807-A-C
• MyVariant Identifiers: chr16:g.27374128A>C (hg19) ; chr16:g.27362807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362807A>C , CM000678.2:g.27362807A>C	GRCh38
NC_000016.9:g.27374128A>C , CM000678.1:g.27374128A>C	GRCh37
NC_000016.8:g.27281629A>C	NCBI36
NG_012086.1:g.53878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1455A>C MANE Select	ENSP00000379111.2:p.Thr485=
ENST00000170630.6:c.1410A>C	ENSP00000170630.3:p.Thr470=
ENST00000395762.6:c.1455A>C	ENSP00000379111.2:p.Thr485=
ENST00000543915.6:c.1455A>C	ENSP00000441667.2:p.Thr485=
ENST00000565352.1:c.230-1296A>C	ENSP00000461268.1:n.230-1296A>C
ENST00000568746.5:c.*1498A>C	ENSP00000455714.1:n.*1498A>C
NM_000418.3:c.1455A>C	NP_000409.1:p.Thr485=
NM_001257406.1:c.1455A>C	NP_001244335.1:p.Thr485=
NM_001257407.1:c.1410A>C	NP_001244336.1:p.Thr470=
NM_001257997.1:c.975A>C	NP_001244926.1:p.Thr325=
XM_005255308.2:c.564A>C	XP_005255365.1:p.Thr188=
XM_006721043.1:c.504A>C	XP_006721106.1:p.Thr168=
XM_011545825.1:c.1455A>C	XP_011544127.1:p.Thr485=
XM_011545826.1:c.1455A>C	XP_011544128.1:p.Thr485=
XM_011545827.1:c.1455A>C	XP_011544129.1:p.Thr485=
XM_011545828.1:c.1188A>C	XP_011544130.1:p.Thr396=
XM_011545829.1:c.1158A>C	XP_011544131.1:p.Thr386=
XM_011545830.1:c.1158A>C	XP_011544132.1:p.Thr386=
XM_011545831.1:c.1158A>C	XP_011544133.1:p.Thr386=
XM_011545832.1:c.1158A>C	XP_011544134.1:p.Thr386=
XM_011545833.1:c.1158A>C	XP_011544135.1:p.Thr386=
XM_011545834.1:c.1032A>C	XP_011544136.1:p.Thr344=
XM_011545826.2:c.1455A>C	XP_011544128.1:p.Thr485=
XM_011545827.2:c.1455A>C	XP_011544129.1:p.Thr485=
XM_011545828.2:c.1188A>C	XP_011544130.1:p.Thr396=
XM_011545830.2:c.1158A>C	XP_011544132.1:p.Thr386=
XM_011545833.2:c.1158A>C	XP_011544135.1:p.Thr386=
XM_011545834.2:c.1032A>C	XP_011544136.1:p.Thr344=
XM_017023211.1:c.*490A>C	XP_016878700.1:n.*490A>C
NM_000418.4:c.1455A>C MANE Select	NP_000409.1:p.Thr485=
NM_001257406.2:c.1455A>C	NP_001244335.1:p.Thr485=
NM_001257407.2:c.1410A>C	NP_001244336.1:p.Thr470=
NM_001257997.2:c.975A>C	NP_001244926.1:p.Thr325=