Canonical Allele Identifier: CA395298871
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362779C>T , CM000678.2:g.27362779C>T GRCh38
NC_000016.9:g.27374100C>T , CM000678.1:g.27374100C>T GRCh37
NC_000016.8:g.27281601C>T NCBI36
NG_012086.1:g.53850C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1427C>T MANE Select ENSP00000379111.2:p.Thr476Ile
ENST00000170630.6:c.1382C>T ENSP00000170630.3:p.Thr461Ile
ENST00000395762.6:c.1427C>T ENSP00000379111.2:p.Thr476Ile
ENST00000543915.6:c.1427C>T ENSP00000441667.2:p.Thr476Ile
ENST00000565352.1:c.230-1324C>T ENSP00000461268.1:n.230-1324C>T
ENST00000568746.5:c.*1470C>T ENSP00000455714.1:n.*1470C>T
NM_000418.3:c.1427C>T NP_000409.1:p.Thr476Ile
NM_001257406.1:c.1427C>T NP_001244335.1:p.Thr476Ile
NM_001257407.1:c.1382C>T NP_001244336.1:p.Thr461Ile
NM_001257997.1:c.947C>T NP_001244926.1:p.Thr316Ile
XM_005255308.2:c.536C>T XP_005255365.1:p.Thr179Ile
XM_006721043.1:c.476C>T XP_006721106.1:p.Thr159Ile
XM_011545825.1:c.1427C>T XP_011544127.1:p.Thr476Ile
XM_011545826.1:c.1427C>T XP_011544128.1:p.Thr476Ile
XM_011545827.1:c.1427C>T XP_011544129.1:p.Thr476Ile
XM_011545828.1:c.1160C>T XP_011544130.1:p.Thr387Ile
XM_011545829.1:c.1130C>T XP_011544131.1:p.Thr377Ile
XM_011545830.1:c.1130C>T XP_011544132.1:p.Thr377Ile
XM_011545831.1:c.1130C>T XP_011544133.1:p.Thr377Ile
XM_011545832.1:c.1130C>T XP_011544134.1:p.Thr377Ile
XM_011545833.1:c.1130C>T XP_011544135.1:p.Thr377Ile
XM_011545834.1:c.1004C>T XP_011544136.1:p.Thr335Ile
XM_011545826.2:c.1427C>T XP_011544128.1:p.Thr476Ile
XM_011545827.2:c.1427C>T XP_011544129.1:p.Thr476Ile
XM_011545828.2:c.1160C>T XP_011544130.1:p.Thr387Ile
XM_011545830.2:c.1130C>T XP_011544132.1:p.Thr377Ile
XM_011545833.2:c.1130C>T XP_011544135.1:p.Thr377Ile
XM_011545834.2:c.1004C>T XP_011544136.1:p.Thr335Ile
XM_017023211.1:c.*462C>T XP_016878700.1:n.*462C>T
NM_000418.4:c.1427C>T MANE Select NP_000409.1:p.Thr476Ile
NM_001257406.2:c.1427C>T NP_001244335.1:p.Thr476Ile
NM_001257407.2:c.1382C>T NP_001244336.1:p.Thr461Ile
NM_001257997.2:c.947C>T NP_001244926.1:p.Thr316Ile