Canonical Allele Identifier: CA395298616
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362691G>A , CM000678.2:g.27362691G>A GRCh38
NC_000016.9:g.27374012G>A , CM000678.1:g.27374012G>A GRCh37
NC_000016.8:g.27281513G>A NCBI36
NG_012086.1:g.53762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1339G>A MANE Select ENSP00000379111.2:p.Glu447Lys
ENST00000170630.6:c.1294G>A ENSP00000170630.3:p.Glu432Lys
ENST00000395762.6:c.1339G>A ENSP00000379111.2:p.Glu447Lys
ENST00000543915.6:c.1339G>A ENSP00000441667.2:p.Glu447Lys
ENST00000565352.1:c.230-1412G>A ENSP00000461268.1:n.230-1412G>A
ENST00000568746.5:c.*1382G>A ENSP00000455714.1:n.*1382G>A
NM_000418.3:c.1339G>A NP_000409.1:p.Glu447Lys
NM_001257406.1:c.1339G>A NP_001244335.1:p.Glu447Lys
NM_001257407.1:c.1294G>A NP_001244336.1:p.Glu432Lys
NM_001257997.1:c.859G>A NP_001244926.1:p.Glu287Lys
XM_005255308.2:c.448G>A XP_005255365.1:p.Glu150Lys
XM_006721043.1:c.388G>A XP_006721106.1:p.Glu130Lys
XM_011545825.1:c.1339G>A XP_011544127.1:p.Glu447Lys
XM_011545826.1:c.1339G>A XP_011544128.1:p.Glu447Lys
XM_011545827.1:c.1339G>A XP_011544129.1:p.Glu447Lys
XM_011545828.1:c.1072G>A XP_011544130.1:p.Glu358Lys
XM_011545829.1:c.1042G>A XP_011544131.1:p.Glu348Lys
XM_011545830.1:c.1042G>A XP_011544132.1:p.Glu348Lys
XM_011545831.1:c.1042G>A XP_011544133.1:p.Glu348Lys
XM_011545832.1:c.1042G>A XP_011544134.1:p.Glu348Lys
XM_011545833.1:c.1042G>A XP_011544135.1:p.Glu348Lys
XM_011545834.1:c.916G>A XP_011544136.1:p.Glu306Lys
XM_011545826.2:c.1339G>A XP_011544128.1:p.Glu447Lys
XM_011545827.2:c.1339G>A XP_011544129.1:p.Glu447Lys
XM_011545828.2:c.1072G>A XP_011544130.1:p.Glu358Lys
XM_011545830.2:c.1042G>A XP_011544132.1:p.Glu348Lys
XM_011545833.2:c.1042G>A XP_011544135.1:p.Glu348Lys
XM_011545834.2:c.916G>A XP_011544136.1:p.Glu306Lys
XM_017023211.1:c.*374G>A XP_016878700.1:n.*374G>A
NM_000418.4:c.1339G>A MANE Select NP_000409.1:p.Glu447Lys
NM_001257406.2:c.1339G>A NP_001244335.1:p.Glu447Lys
NM_001257407.2:c.1294G>A NP_001244336.1:p.Glu432Lys
NM_001257997.2:c.859G>A NP_001244926.1:p.Glu287Lys