Canonical Allele Identifier: CA395300293

Gene: IL4R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27363079A>C , CM000678.2:g.27363079A>C	GRCh38
NC_000016.9:g.27374400A>C , CM000678.1:g.27374400A>C	GRCh37
NC_000016.8:g.27281901A>C	NCBI36
NG_012086.1:g.54150A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000418.4:c.1727A>C MANE Select	NP_000409.1:p.Gln576Pro
ENST00000395762.7:c.1727A>C MANE Select	ENSP00000379111.2:p.Gln576Pro
NM_000418.3:c.1727A>C	NP_000409.1:p.Gln576Pro
NM_001257406.1:c.1727A>C	NP_001244335.1:p.Gln576Pro
NM_001257406.2:c.1727A>C	NP_001244335.1:p.Gln576Pro
NM_001257407.1:c.1682A>C	NP_001244336.1:p.Gln561Pro
NM_001257407.2:c.1682A>C	NP_001244336.1:p.Gln561Pro
NM_001257997.1:c.1247A>C	NP_001244926.1:p.Gln416Pro
NM_001257997.2:c.1247A>C	NP_001244926.1:p.Gln416Pro
ENST00000170630.6:c.1682A>C	ENSP00000170630.3:p.Gln561Pro
ENST00000395762.6:c.1727A>C	ENSP00000379111.2:p.Gln576Pro
ENST00000543915.6:c.1727A>C	ENSP00000441667.2:p.Gln576Pro
ENST00000565352.1:c.230-1024A>C	ENSP00000461268.1:n.230-1024A>C
ENST00000568746.5:c.*1770A>C	ENSP00000455714.1:n.*1770A>C
XM_005255308.2:c.836A>C	XP_005255365.1:p.Gln279Pro
XM_006721043.1:c.776A>C	XP_006721106.1:p.Gln259Pro
XM_011545825.1:c.1727A>C	XP_011544127.1:p.Gln576Pro
XM_011545826.1:c.1727A>C	XP_011544128.1:p.Gln576Pro
XM_011545826.2:c.1727A>C	XP_011544128.1:p.Gln576Pro
XM_011545827.1:c.1727A>C	XP_011544129.1:p.Gln576Pro
XM_011545827.2:c.1727A>C	XP_011544129.1:p.Gln576Pro
XM_011545828.1:c.1460A>C	XP_011544130.1:p.Gln487Pro
XM_011545828.2:c.1460A>C	XP_011544130.1:p.Gln487Pro
XM_011545829.1:c.1430A>C	XP_011544131.1:p.Gln477Pro
XM_011545830.1:c.1430A>C	XP_011544132.1:p.Gln477Pro
XM_011545830.2:c.1430A>C	XP_011544132.1:p.Gln477Pro
XM_011545831.1:c.1430A>C	XP_011544133.1:p.Gln477Pro
XM_011545832.1:c.1430A>C	XP_011544134.1:p.Gln477Pro
XM_011545833.1:c.1430A>C	XP_011544135.1:p.Gln477Pro
XM_011545833.2:c.1430A>C	XP_011544135.1:p.Gln477Pro
XM_011545834.1:c.1304A>C	XP_011544136.1:p.Gln435Pro
XM_011545834.2:c.1304A>C	XP_011544136.1:p.Gln435Pro