Canonical Allele Identifier: CA395299135
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362905T>G , CM000678.2:g.27362905T>G GRCh38
NC_000016.9:g.27374226T>G , CM000678.1:g.27374226T>G GRCh37
NC_000016.8:g.27281727T>G NCBI36
NG_012086.1:g.53976T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1553T>G MANE Select ENSP00000379111.2:p.Leu518Arg
ENST00000170630.6:c.1508T>G ENSP00000170630.3:p.Leu503Arg
ENST00000395762.6:c.1553T>G ENSP00000379111.2:p.Leu518Arg
ENST00000543915.6:c.1553T>G ENSP00000441667.2:p.Leu518Arg
ENST00000565352.1:c.230-1198T>G ENSP00000461268.1:n.230-1198T>G
ENST00000568746.5:c.*1596T>G ENSP00000455714.1:n.*1596T>G
NM_000418.3:c.1553T>G NP_000409.1:p.Leu518Arg
NM_001257406.1:c.1553T>G NP_001244335.1:p.Leu518Arg
NM_001257407.1:c.1508T>G NP_001244336.1:p.Leu503Arg
NM_001257997.1:c.1073T>G NP_001244926.1:p.Leu358Arg
XM_005255308.2:c.662T>G XP_005255365.1:p.Leu221Arg
XM_006721043.1:c.602T>G XP_006721106.1:p.Leu201Arg
XM_011545825.1:c.1553T>G XP_011544127.1:p.Leu518Arg
XM_011545826.1:c.1553T>G XP_011544128.1:p.Leu518Arg
XM_011545827.1:c.1553T>G XP_011544129.1:p.Leu518Arg
XM_011545828.1:c.1286T>G XP_011544130.1:p.Leu429Arg
XM_011545829.1:c.1256T>G XP_011544131.1:p.Leu419Arg
XM_011545830.1:c.1256T>G XP_011544132.1:p.Leu419Arg
XM_011545831.1:c.1256T>G XP_011544133.1:p.Leu419Arg
XM_011545832.1:c.1256T>G XP_011544134.1:p.Leu419Arg
XM_011545833.1:c.1256T>G XP_011544135.1:p.Leu419Arg
XM_011545834.1:c.1130T>G XP_011544136.1:p.Leu377Arg
XM_011545826.2:c.1553T>G XP_011544128.1:p.Leu518Arg
XM_011545827.2:c.1553T>G XP_011544129.1:p.Leu518Arg
XM_011545828.2:c.1286T>G XP_011544130.1:p.Leu429Arg
XM_011545830.2:c.1256T>G XP_011544132.1:p.Leu419Arg
XM_011545833.2:c.1256T>G XP_011544135.1:p.Leu419Arg
XM_011545834.2:c.1130T>G XP_011544136.1:p.Leu377Arg
NM_000418.4:c.1553T>G MANE Select NP_000409.1:p.Leu518Arg
NM_001257406.2:c.1553T>G NP_001244335.1:p.Leu518Arg
NM_001257407.2:c.1508T>G NP_001244336.1:p.Leu503Arg
NM_001257997.2:c.1073T>G NP_001244926.1:p.Leu358Arg