Canonical Allele Identifier: CA919683178
Gene: IL4R HGNC NCBI

Linked Data

dbSNP Id: rs1555491202

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362826del , CM000678.2:g.27362826del GRCh38
NC_000016.9:g.27374147del , CM000678.1:g.27374147del GRCh37
NC_000016.8:g.27281648del NCBI36
NG_012086.1:g.53897del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1474del MANE Select ENSP00000379111.2:p.Ala492GlnfsTer13
ENST00000170630.6:c.1429del ENSP00000170630.3:p.Ala477GlnfsTer13
ENST00000395762.6:c.1474del ENSP00000379111.2:p.Ala492GlnfsTer13
ENST00000543915.6:c.1474del ENSP00000441667.2:p.Ala492GlnfsTer13
ENST00000565352.1:c.230-1277del ENSP00000461268.1:n.230-1277del
ENST00000568746.5:c.*1517del ENSP00000455714.1:n.*1517del
NM_000418.3:c.1474del NP_000409.1:p.Ala492GlnfsTer13
NM_001257406.1:c.1474del NP_001244335.1:p.Ala492GlnfsTer13
NM_001257407.1:c.1429del NP_001244336.1:p.Ala477GlnfsTer13
NM_001257997.1:c.994del NP_001244926.1:p.Ala332GlnfsTer13
XM_005255308.2:c.583del XP_005255365.1:p.Ala195GlnfsTer13
XM_006721043.1:c.523del XP_006721106.1:p.Ala175GlnfsTer13
XM_011545825.1:c.1474del XP_011544127.1:p.Ala492GlnfsTer13
XM_011545826.1:c.1474del XP_011544128.1:p.Ala492GlnfsTer13
XM_011545827.1:c.1474del XP_011544129.1:p.Ala492GlnfsTer13
XM_011545828.1:c.1207del XP_011544130.1:p.Ala403GlnfsTer13
XM_011545829.1:c.1177del XP_011544131.1:p.Ala393GlnfsTer13
XM_011545830.1:c.1177del XP_011544132.1:p.Ala393GlnfsTer13
XM_011545831.1:c.1177del XP_011544133.1:p.Ala393GlnfsTer13
XM_011545832.1:c.1177del XP_011544134.1:p.Ala393GlnfsTer13
XM_011545833.1:c.1177del XP_011544135.1:p.Ala393GlnfsTer13
XM_011545834.1:c.1051del XP_011544136.1:p.Ala351GlnfsTer13
XM_011545826.2:c.1474del XP_011544128.1:p.Ala492GlnfsTer13
XM_011545827.2:c.1474del XP_011544129.1:p.Ala492GlnfsTer13
XM_011545828.2:c.1207del XP_011544130.1:p.Ala403GlnfsTer13
XM_011545830.2:c.1177del XP_011544132.1:p.Ala393GlnfsTer13
XM_011545833.2:c.1177del XP_011544135.1:p.Ala393GlnfsTer13
XM_011545834.2:c.1051del XP_011544136.1:p.Ala351GlnfsTer13
XM_017023211.1:c.*509del XP_016878700.1:n.*509del
NM_000418.4:c.1474del MANE Select NP_000409.1:p.Ala492GlnfsTer13
NM_001257406.2:c.1474del NP_001244335.1:p.Ala492GlnfsTer13
NM_001257407.2:c.1429del NP_001244336.1:p.Ala477GlnfsTer13
NM_001257997.2:c.994del NP_001244926.1:p.Ala332GlnfsTer13