Canonical Allele Identifier: CA395299097
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1535A>C MANE Select ENSP00000379111.2:p.Glu512Ala
ENST00000170630.6:c.1490A>C ENSP00000170630.3:p.Glu497Ala
ENST00000395762.6:c.1535A>C ENSP00000379111.2:p.Glu512Ala
ENST00000543915.6:c.1535A>C ENSP00000441667.2:p.Glu512Ala
ENST00000565352.1:c.230-1216A>C ENSP00000461268.1:n.230-1216A>C
ENST00000568746.5:c.*1578A>C ENSP00000455714.1:n.*1578A>C
NM_000418.3:c.1535A>C NP_000409.1:p.Glu512Ala
NM_001257406.1:c.1535A>C NP_001244335.1:p.Glu512Ala
NM_001257407.1:c.1490A>C NP_001244336.1:p.Glu497Ala
NM_001257997.1:c.1055A>C NP_001244926.1:p.Glu352Ala
XM_005255308.2:c.644A>C XP_005255365.1:p.Glu215Ala
XM_006721043.1:c.584A>C XP_006721106.1:p.Glu195Ala
XM_011545825.1:c.1535A>C XP_011544127.1:p.Glu512Ala
XM_011545826.1:c.1535A>C XP_011544128.1:p.Glu512Ala
XM_011545827.1:c.1535A>C XP_011544129.1:p.Glu512Ala
XM_011545828.1:c.1268A>C XP_011544130.1:p.Glu423Ala
XM_011545829.1:c.1238A>C XP_011544131.1:p.Glu413Ala
XM_011545830.1:c.1238A>C XP_011544132.1:p.Glu413Ala
XM_011545831.1:c.1238A>C XP_011544133.1:p.Glu413Ala
XM_011545832.1:c.1238A>C XP_011544134.1:p.Glu413Ala
XM_011545833.1:c.1238A>C XP_011544135.1:p.Glu413Ala
XM_011545834.1:c.1112A>C XP_011544136.1:p.Glu371Ala
XM_011545826.2:c.1535A>C XP_011544128.1:p.Glu512Ala
XM_011545827.2:c.1535A>C XP_011544129.1:p.Glu512Ala
XM_011545828.2:c.1268A>C XP_011544130.1:p.Glu423Ala
XM_011545830.2:c.1238A>C XP_011544132.1:p.Glu413Ala
XM_011545833.2:c.1238A>C XP_011544135.1:p.Glu413Ala
XM_011545834.2:c.1112A>C XP_011544136.1:p.Glu371Ala
NM_000418.4:c.1535A>C MANE Select NP_000409.1:p.Glu512Ala
NM_001257406.2:c.1535A>C NP_001244335.1:p.Glu512Ala
NM_001257407.2:c.1490A>C NP_001244336.1:p.Glu497Ala
NM_001257997.2:c.1055A>C NP_001244926.1:p.Glu352Ala