Canonical Allele Identifier: CA2215169795
Gene: IL4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362797T= , CM000678.2:g.27362797T= GRCh38
NC_000016.9:g.27374118T= , CM000678.1:g.27374118T= GRCh37
NC_000016.8:g.27281619T= NCBI36
NG_012086.1:g.53868T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1445T= MANE Select ENSP00000379111.2:p.Leu482=
ENST00000170630.6:c.1400T= ENSP00000170630.3:p.Leu467=
ENST00000395762.6:c.1445T= ENSP00000379111.2:p.Leu482=
ENST00000543915.6:c.1445T= ENSP00000441667.2:p.Leu482=
ENST00000565352.1:c.230-1306T= ENSP00000461268.1:n.230-1306T=
ENST00000568746.5:c.*1488T= ENSP00000455714.1:n.*1488T=
NM_000418.3:c.1445T= NP_000409.1:p.Leu482=
NM_001257406.1:c.1445T= NP_001244335.1:p.Leu482=
NM_001257407.1:c.1400T= NP_001244336.1:p.Leu467=
NM_001257997.1:c.965T= NP_001244926.1:p.Leu322=
XM_005255308.2:c.554T= XP_005255365.1:p.Leu185=
XM_006721043.1:c.494T= XP_006721106.1:p.Leu165=
XM_011545825.1:c.1445T= XP_011544127.1:p.Leu482=
XM_011545826.1:c.1445T= XP_011544128.1:p.Leu482=
XM_011545827.1:c.1445T= XP_011544129.1:p.Leu482=
XM_011545828.1:c.1178T= XP_011544130.1:p.Leu393=
XM_011545829.1:c.1148T= XP_011544131.1:p.Leu383=
XM_011545830.1:c.1148T= XP_011544132.1:p.Leu383=
XM_011545831.1:c.1148T= XP_011544133.1:p.Leu383=
XM_011545832.1:c.1148T= XP_011544134.1:p.Leu383=
XM_011545833.1:c.1148T= XP_011544135.1:p.Leu383=
XM_011545834.1:c.1022T= XP_011544136.1:p.Leu341=
XM_011545826.2:c.1445T= XP_011544128.1:p.Leu482=
XM_011545827.2:c.1445T= XP_011544129.1:p.Leu482=
XM_011545828.2:c.1178T= XP_011544130.1:p.Leu393=
XM_011545830.2:c.1148T= XP_011544132.1:p.Leu383=
XM_011545833.2:c.1148T= XP_011544135.1:p.Leu383=
XM_011545834.2:c.1022T= XP_011544136.1:p.Leu341=
XM_017023211.1:c.*480T= XP_016878700.1:n.*480T=
NM_000418.4:c.1445T= MANE Select NP_000409.1:p.Leu482=
NM_001257406.2:c.1445T= NP_001244335.1:p.Leu482=
NM_001257407.2:c.1400T= NP_001244336.1:p.Leu467=
NM_001257997.2:c.965T= NP_001244926.1:p.Leu322=