Canonical Allele Identifier: CA2215169911

Gene: IL4R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362906G= , CM000678.2:g.27362906G=	GRCh38
NC_000016.9:g.27374227G= , CM000678.1:g.27374227G=	GRCh37
NC_000016.8:g.27281728G=	NCBI36
NG_012086.1:g.53977G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1554G= MANE Select	ENSP00000379111.2:p.Leu518=
ENST00000170630.6:c.1509G=	ENSP00000170630.3:p.Leu503=
ENST00000395762.6:c.1554G=	ENSP00000379111.2:p.Leu518=
ENST00000543915.6:c.1554G=	ENSP00000441667.2:p.Leu518=
ENST00000565352.1:c.230-1197G=	ENSP00000461268.1:n.230-1197G=
ENST00000568746.5:c.*1597G=	ENSP00000455714.1:n.*1597G=
NM_000418.3:c.1554G=	NP_000409.1:p.Leu518=
NM_001257406.1:c.1554G=	NP_001244335.1:p.Leu518=
NM_001257407.1:c.1509G=	NP_001244336.1:p.Leu503=
NM_001257997.1:c.1074G=	NP_001244926.1:p.Leu358=
XM_005255308.2:c.663G=	XP_005255365.1:p.Leu221=
XM_006721043.1:c.603G=	XP_006721106.1:p.Leu201=
XM_011545825.1:c.1554G=	XP_011544127.1:p.Leu518=
XM_011545826.1:c.1554G=	XP_011544128.1:p.Leu518=
XM_011545827.1:c.1554G=	XP_011544129.1:p.Leu518=
XM_011545828.1:c.1287G=	XP_011544130.1:p.Leu429=
XM_011545829.1:c.1257G=	XP_011544131.1:p.Leu419=
XM_011545830.1:c.1257G=	XP_011544132.1:p.Leu419=
XM_011545831.1:c.1257G=	XP_011544133.1:p.Leu419=
XM_011545832.1:c.1257G=	XP_011544134.1:p.Leu419=
XM_011545833.1:c.1257G=	XP_011544135.1:p.Leu419=
XM_011545834.1:c.1131G=	XP_011544136.1:p.Leu377=
XM_011545826.2:c.1554G=	XP_011544128.1:p.Leu518=
XM_011545827.2:c.1554G=	XP_011544129.1:p.Leu518=
XM_011545828.2:c.1287G=	XP_011544130.1:p.Leu429=
XM_011545830.2:c.1257G=	XP_011544132.1:p.Leu419=
XM_011545833.2:c.1257G=	XP_011544135.1:p.Leu419=
XM_011545834.2:c.1131G=	XP_011544136.1:p.Leu377=
NM_000418.4:c.1554G= MANE Select	NP_000409.1:p.Leu518=
NM_001257406.2:c.1554G=	NP_001244335.1:p.Leu518=
NM_001257407.2:c.1509G=	NP_001244336.1:p.Leu503=
NM_001257997.2:c.1074G=	NP_001244926.1:p.Leu358=