Canonical Allele Identifier: CA395299094
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362886G>A , CM000678.2:g.27362886G>A GRCh38
NC_000016.9:g.27374207G>A , CM000678.1:g.27374207G>A GRCh37
NC_000016.8:g.27281708G>A NCBI36
NG_012086.1:g.53957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1534G>A MANE Select ENSP00000379111.2:p.Glu512Lys
ENST00000170630.6:c.1489G>A ENSP00000170630.3:p.Glu497Lys
ENST00000395762.6:c.1534G>A ENSP00000379111.2:p.Glu512Lys
ENST00000543915.6:c.1534G>A ENSP00000441667.2:p.Glu512Lys
ENST00000565352.1:c.230-1217G>A ENSP00000461268.1:n.230-1217G>A
ENST00000568746.5:c.*1577G>A ENSP00000455714.1:n.*1577G>A
NM_000418.3:c.1534G>A NP_000409.1:p.Glu512Lys
NM_001257406.1:c.1534G>A NP_001244335.1:p.Glu512Lys
NM_001257407.1:c.1489G>A NP_001244336.1:p.Glu497Lys
NM_001257997.1:c.1054G>A NP_001244926.1:p.Glu352Lys
XM_005255308.2:c.643G>A XP_005255365.1:p.Glu215Lys
XM_006721043.1:c.583G>A XP_006721106.1:p.Glu195Lys
XM_011545825.1:c.1534G>A XP_011544127.1:p.Glu512Lys
XM_011545826.1:c.1534G>A XP_011544128.1:p.Glu512Lys
XM_011545827.1:c.1534G>A XP_011544129.1:p.Glu512Lys
XM_011545828.1:c.1267G>A XP_011544130.1:p.Glu423Lys
XM_011545829.1:c.1237G>A XP_011544131.1:p.Glu413Lys
XM_011545830.1:c.1237G>A XP_011544132.1:p.Glu413Lys
XM_011545831.1:c.1237G>A XP_011544133.1:p.Glu413Lys
XM_011545832.1:c.1237G>A XP_011544134.1:p.Glu413Lys
XM_011545833.1:c.1237G>A XP_011544135.1:p.Glu413Lys
XM_011545834.1:c.1111G>A XP_011544136.1:p.Glu371Lys
XM_011545826.2:c.1534G>A XP_011544128.1:p.Glu512Lys
XM_011545827.2:c.1534G>A XP_011544129.1:p.Glu512Lys
XM_011545828.2:c.1267G>A XP_011544130.1:p.Glu423Lys
XM_011545830.2:c.1237G>A XP_011544132.1:p.Glu413Lys
XM_011545833.2:c.1237G>A XP_011544135.1:p.Glu413Lys
XM_011545834.2:c.1111G>A XP_011544136.1:p.Glu371Lys
NM_000418.4:c.1534G>A MANE Select NP_000409.1:p.Glu512Lys
NM_001257406.2:c.1534G>A NP_001244335.1:p.Glu512Lys
NM_001257407.2:c.1489G>A NP_001244336.1:p.Glu497Lys
NM_001257997.2:c.1054G>A NP_001244926.1:p.Glu352Lys