Canonical Allele Identifier: CA395298749
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362721C>G , CM000678.2:g.27362721C>G GRCh38
NC_000016.9:g.27374042C>G , CM000678.1:g.27374042C>G GRCh37
NC_000016.8:g.27281543C>G NCBI36
NG_012086.1:g.53792C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1369C>G MANE Select ENSP00000379111.2:p.Pro457Ala
ENST00000170630.6:c.1324C>G ENSP00000170630.3:p.Pro442Ala
ENST00000395762.6:c.1369C>G ENSP00000379111.2:p.Pro457Ala
ENST00000543915.6:c.1369C>G ENSP00000441667.2:p.Pro457Ala
ENST00000565352.1:c.230-1382C>G ENSP00000461268.1:n.230-1382C>G
ENST00000568746.5:c.*1412C>G ENSP00000455714.1:n.*1412C>G
NM_000418.3:c.1369C>G NP_000409.1:p.Pro457Ala
NM_001257406.1:c.1369C>G NP_001244335.1:p.Pro457Ala
NM_001257407.1:c.1324C>G NP_001244336.1:p.Pro442Ala
NM_001257997.1:c.889C>G NP_001244926.1:p.Pro297Ala
XM_005255308.2:c.478C>G XP_005255365.1:p.Pro160Ala
XM_006721043.1:c.418C>G XP_006721106.1:p.Pro140Ala
XM_011545825.1:c.1369C>G XP_011544127.1:p.Pro457Ala
XM_011545826.1:c.1369C>G XP_011544128.1:p.Pro457Ala
XM_011545827.1:c.1369C>G XP_011544129.1:p.Pro457Ala
XM_011545828.1:c.1102C>G XP_011544130.1:p.Pro368Ala
XM_011545829.1:c.1072C>G XP_011544131.1:p.Pro358Ala
XM_011545830.1:c.1072C>G XP_011544132.1:p.Pro358Ala
XM_011545831.1:c.1072C>G XP_011544133.1:p.Pro358Ala
XM_011545832.1:c.1072C>G XP_011544134.1:p.Pro358Ala
XM_011545833.1:c.1072C>G XP_011544135.1:p.Pro358Ala
XM_011545834.1:c.946C>G XP_011544136.1:p.Pro316Ala
XM_011545826.2:c.1369C>G XP_011544128.1:p.Pro457Ala
XM_011545827.2:c.1369C>G XP_011544129.1:p.Pro457Ala
XM_011545828.2:c.1102C>G XP_011544130.1:p.Pro368Ala
XM_011545830.2:c.1072C>G XP_011544132.1:p.Pro358Ala
XM_011545833.2:c.1072C>G XP_011544135.1:p.Pro358Ala
XM_011545834.2:c.946C>G XP_011544136.1:p.Pro316Ala
XM_017023211.1:c.*404C>G XP_016878700.1:n.*404C>G
NM_000418.4:c.1369C>G MANE Select NP_000409.1:p.Pro457Ala
NM_001257406.2:c.1369C>G NP_001244335.1:p.Pro457Ala
NM_001257407.2:c.1324C>G NP_001244336.1:p.Pro442Ala
NM_001257997.2:c.889C>G NP_001244926.1:p.Pro297Ala