Canonical Allele Identifier: CA395299138
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362908T>A , CM000678.2:g.27362908T>A GRCh38
NC_000016.9:g.27374229T>A , CM000678.1:g.27374229T>A GRCh37
NC_000016.8:g.27281730T>A NCBI36
NG_012086.1:g.53979T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1556T>A MANE Select ENSP00000379111.2:p.Leu519Gln
ENST00000170630.6:c.1511T>A ENSP00000170630.3:p.Leu504Gln
ENST00000395762.6:c.1556T>A ENSP00000379111.2:p.Leu519Gln
ENST00000543915.6:c.1556T>A ENSP00000441667.2:p.Leu519Gln
ENST00000565352.1:c.230-1195T>A ENSP00000461268.1:n.230-1195T>A
ENST00000568746.5:c.*1599T>A ENSP00000455714.1:n.*1599T>A
NM_000418.3:c.1556T>A NP_000409.1:p.Leu519Gln
NM_001257406.1:c.1556T>A NP_001244335.1:p.Leu519Gln
NM_001257407.1:c.1511T>A NP_001244336.1:p.Leu504Gln
NM_001257997.1:c.1076T>A NP_001244926.1:p.Leu359Gln
XM_005255308.2:c.665T>A XP_005255365.1:p.Leu222Gln
XM_006721043.1:c.605T>A XP_006721106.1:p.Leu202Gln
XM_011545825.1:c.1556T>A XP_011544127.1:p.Leu519Gln
XM_011545826.1:c.1556T>A XP_011544128.1:p.Leu519Gln
XM_011545827.1:c.1556T>A XP_011544129.1:p.Leu519Gln
XM_011545828.1:c.1289T>A XP_011544130.1:p.Leu430Gln
XM_011545829.1:c.1259T>A XP_011544131.1:p.Leu420Gln
XM_011545830.1:c.1259T>A XP_011544132.1:p.Leu420Gln
XM_011545831.1:c.1259T>A XP_011544133.1:p.Leu420Gln
XM_011545832.1:c.1259T>A XP_011544134.1:p.Leu420Gln
XM_011545833.1:c.1259T>A XP_011544135.1:p.Leu420Gln
XM_011545834.1:c.1133T>A XP_011544136.1:p.Leu378Gln
XM_011545826.2:c.1556T>A XP_011544128.1:p.Leu519Gln
XM_011545827.2:c.1556T>A XP_011544129.1:p.Leu519Gln
XM_011545828.2:c.1289T>A XP_011544130.1:p.Leu430Gln
XM_011545830.2:c.1259T>A XP_011544132.1:p.Leu420Gln
XM_011545833.2:c.1259T>A XP_011544135.1:p.Leu420Gln
XM_011545834.2:c.1133T>A XP_011544136.1:p.Leu378Gln
NM_000418.4:c.1556T>A MANE Select NP_000409.1:p.Leu519Gln
NM_001257406.2:c.1556T>A NP_001244335.1:p.Leu519Gln
NM_001257407.2:c.1511T>A NP_001244336.1:p.Leu504Gln
NM_001257997.2:c.1076T>A NP_001244926.1:p.Leu359Gln