Canonical Allele Identifier: CA395299099
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362887A>T , CM000678.2:g.27362887A>T GRCh38
NC_000016.9:g.27374208A>T , CM000678.1:g.27374208A>T GRCh37
NC_000016.8:g.27281709A>T NCBI36
NG_012086.1:g.53958A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1535A>T MANE Select ENSP00000379111.2:p.Glu512Val
ENST00000170630.6:c.1490A>T ENSP00000170630.3:p.Glu497Val
ENST00000395762.6:c.1535A>T ENSP00000379111.2:p.Glu512Val
ENST00000543915.6:c.1535A>T ENSP00000441667.2:p.Glu512Val
ENST00000565352.1:c.230-1216A>T ENSP00000461268.1:n.230-1216A>T
ENST00000568746.5:c.*1578A>T ENSP00000455714.1:n.*1578A>T
NM_000418.3:c.1535A>T NP_000409.1:p.Glu512Val
NM_001257406.1:c.1535A>T NP_001244335.1:p.Glu512Val
NM_001257407.1:c.1490A>T NP_001244336.1:p.Glu497Val
NM_001257997.1:c.1055A>T NP_001244926.1:p.Glu352Val
XM_005255308.2:c.644A>T XP_005255365.1:p.Glu215Val
XM_006721043.1:c.584A>T XP_006721106.1:p.Glu195Val
XM_011545825.1:c.1535A>T XP_011544127.1:p.Glu512Val
XM_011545826.1:c.1535A>T XP_011544128.1:p.Glu512Val
XM_011545827.1:c.1535A>T XP_011544129.1:p.Glu512Val
XM_011545828.1:c.1268A>T XP_011544130.1:p.Glu423Val
XM_011545829.1:c.1238A>T XP_011544131.1:p.Glu413Val
XM_011545830.1:c.1238A>T XP_011544132.1:p.Glu413Val
XM_011545831.1:c.1238A>T XP_011544133.1:p.Glu413Val
XM_011545832.1:c.1238A>T XP_011544134.1:p.Glu413Val
XM_011545833.1:c.1238A>T XP_011544135.1:p.Glu413Val
XM_011545834.1:c.1112A>T XP_011544136.1:p.Glu371Val
XM_011545826.2:c.1535A>T XP_011544128.1:p.Glu512Val
XM_011545827.2:c.1535A>T XP_011544129.1:p.Glu512Val
XM_011545828.2:c.1268A>T XP_011544130.1:p.Glu423Val
XM_011545830.2:c.1238A>T XP_011544132.1:p.Glu413Val
XM_011545833.2:c.1238A>T XP_011544135.1:p.Glu413Val
XM_011545834.2:c.1112A>T XP_011544136.1:p.Glu371Val
NM_000418.4:c.1535A>T MANE Select NP_000409.1:p.Glu512Val
NM_001257406.2:c.1535A>T NP_001244335.1:p.Glu512Val
NM_001257407.2:c.1490A>T NP_001244336.1:p.Glu497Val
NM_001257997.2:c.1055A>T NP_001244926.1:p.Glu352Val