Canonical Allele Identifier: CA395298940
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362811A>G , CM000678.2:g.27362811A>G GRCh38
NC_000016.9:g.27374132A>G , CM000678.1:g.27374132A>G GRCh37
NC_000016.8:g.27281633A>G NCBI36
NG_012086.1:g.53882A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1459A>G MANE Select ENSP00000379111.2:p.Thr487Ala
ENST00000170630.6:c.1414A>G ENSP00000170630.3:p.Thr472Ala
ENST00000395762.6:c.1459A>G ENSP00000379111.2:p.Thr487Ala
ENST00000543915.6:c.1459A>G ENSP00000441667.2:p.Thr487Ala
ENST00000565352.1:c.230-1292A>G ENSP00000461268.1:n.230-1292A>G
ENST00000568746.5:c.*1502A>G ENSP00000455714.1:n.*1502A>G
NM_000418.3:c.1459A>G NP_000409.1:p.Thr487Ala
NM_001257406.1:c.1459A>G NP_001244335.1:p.Thr487Ala
NM_001257407.1:c.1414A>G NP_001244336.1:p.Thr472Ala
NM_001257997.1:c.979A>G NP_001244926.1:p.Thr327Ala
XM_005255308.2:c.568A>G XP_005255365.1:p.Thr190Ala
XM_006721043.1:c.508A>G XP_006721106.1:p.Thr170Ala
XM_011545825.1:c.1459A>G XP_011544127.1:p.Thr487Ala
XM_011545826.1:c.1459A>G XP_011544128.1:p.Thr487Ala
XM_011545827.1:c.1459A>G XP_011544129.1:p.Thr487Ala
XM_011545828.1:c.1192A>G XP_011544130.1:p.Thr398Ala
XM_011545829.1:c.1162A>G XP_011544131.1:p.Thr388Ala
XM_011545830.1:c.1162A>G XP_011544132.1:p.Thr388Ala
XM_011545831.1:c.1162A>G XP_011544133.1:p.Thr388Ala
XM_011545832.1:c.1162A>G XP_011544134.1:p.Thr388Ala
XM_011545833.1:c.1162A>G XP_011544135.1:p.Thr388Ala
XM_011545834.1:c.1036A>G XP_011544136.1:p.Thr346Ala
XM_011545826.2:c.1459A>G XP_011544128.1:p.Thr487Ala
XM_011545827.2:c.1459A>G XP_011544129.1:p.Thr487Ala
XM_011545828.2:c.1192A>G XP_011544130.1:p.Thr398Ala
XM_011545830.2:c.1162A>G XP_011544132.1:p.Thr388Ala
XM_011545833.2:c.1162A>G XP_011544135.1:p.Thr388Ala
XM_011545834.2:c.1036A>G XP_011544136.1:p.Thr346Ala
XM_017023211.1:c.*494A>G XP_016878700.1:n.*494A>G
NM_000418.4:c.1459A>G MANE Select NP_000409.1:p.Thr487Ala
NM_001257406.2:c.1459A>G NP_001244335.1:p.Thr487Ala
NM_001257407.2:c.1414A>G NP_001244336.1:p.Thr472Ala
NM_001257997.2:c.979A>G NP_001244926.1:p.Thr327Ala