Canonical Allele Identifier: CA395298919
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362802T>G , CM000678.2:g.27362802T>G GRCh38
NC_000016.9:g.27374123T>G , CM000678.1:g.27374123T>G GRCh37
NC_000016.8:g.27281624T>G NCBI36
NG_012086.1:g.53873T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1450T>G MANE Select ENSP00000379111.2:p.Cys484Gly
ENST00000170630.6:c.1405T>G ENSP00000170630.3:p.Cys469Gly
ENST00000395762.6:c.1450T>G ENSP00000379111.2:p.Cys484Gly
ENST00000543915.6:c.1450T>G ENSP00000441667.2:p.Cys484Gly
ENST00000565352.1:c.230-1301T>G ENSP00000461268.1:n.230-1301T>G
ENST00000568746.5:c.*1493T>G ENSP00000455714.1:n.*1493T>G
NM_000418.3:c.1450T>G NP_000409.1:p.Cys484Gly
NM_001257406.1:c.1450T>G NP_001244335.1:p.Cys484Gly
NM_001257407.1:c.1405T>G NP_001244336.1:p.Cys469Gly
NM_001257997.1:c.970T>G NP_001244926.1:p.Cys324Gly
XM_005255308.2:c.559T>G XP_005255365.1:p.Cys187Gly
XM_006721043.1:c.499T>G XP_006721106.1:p.Cys167Gly
XM_011545825.1:c.1450T>G XP_011544127.1:p.Cys484Gly
XM_011545826.1:c.1450T>G XP_011544128.1:p.Cys484Gly
XM_011545827.1:c.1450T>G XP_011544129.1:p.Cys484Gly
XM_011545828.1:c.1183T>G XP_011544130.1:p.Cys395Gly
XM_011545829.1:c.1153T>G XP_011544131.1:p.Cys385Gly
XM_011545830.1:c.1153T>G XP_011544132.1:p.Cys385Gly
XM_011545831.1:c.1153T>G XP_011544133.1:p.Cys385Gly
XM_011545832.1:c.1153T>G XP_011544134.1:p.Cys385Gly
XM_011545833.1:c.1153T>G XP_011544135.1:p.Cys385Gly
XM_011545834.1:c.1027T>G XP_011544136.1:p.Cys343Gly
XM_011545826.2:c.1450T>G XP_011544128.1:p.Cys484Gly
XM_011545827.2:c.1450T>G XP_011544129.1:p.Cys484Gly
XM_011545828.2:c.1183T>G XP_011544130.1:p.Cys395Gly
XM_011545830.2:c.1153T>G XP_011544132.1:p.Cys385Gly
XM_011545833.2:c.1153T>G XP_011544135.1:p.Cys385Gly
XM_011545834.2:c.1027T>G XP_011544136.1:p.Cys343Gly
XM_017023211.1:c.*485T>G XP_016878700.1:n.*485T>G
NM_000418.4:c.1450T>G MANE Select NP_000409.1:p.Cys484Gly
NM_001257406.2:c.1450T>G NP_001244335.1:p.Cys484Gly
NM_001257407.2:c.1405T>G NP_001244336.1:p.Cys469Gly
NM_001257997.2:c.970T>G NP_001244926.1:p.Cys324Gly