Canonical Allele Identifier: CA395298467
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362666T>A , CM000678.2:g.27362666T>A GRCh38
NC_000016.9:g.27373987T>A , CM000678.1:g.27373987T>A GRCh37
NC_000016.8:g.27281488T>A NCBI36
NG_012086.1:g.53737T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1314T>A MANE Select ENSP00000379111.2:p.Ser438Arg
ENST00000170630.6:c.1269T>A ENSP00000170630.3:p.Ser423Arg
ENST00000395762.6:c.1314T>A ENSP00000379111.2:p.Ser438Arg
ENST00000543915.6:c.1314T>A ENSP00000441667.2:p.Ser438Arg
ENST00000565352.1:c.230-1437T>A ENSP00000461268.1:n.230-1437T>A
ENST00000568746.5:c.*1357T>A ENSP00000455714.1:n.*1357T>A
NM_000418.3:c.1314T>A NP_000409.1:p.Ser438Arg
NM_001257406.1:c.1314T>A NP_001244335.1:p.Ser438Arg
NM_001257407.1:c.1269T>A NP_001244336.1:p.Ser423Arg
NM_001257997.1:c.834T>A NP_001244926.1:p.Ser278Arg
XM_005255308.2:c.423T>A XP_005255365.1:p.Ser141Arg
XM_006721043.1:c.363T>A XP_006721106.1:p.Ser121Arg
XM_011545825.1:c.1314T>A XP_011544127.1:p.Ser438Arg
XM_011545826.1:c.1314T>A XP_011544128.1:p.Ser438Arg
XM_011545827.1:c.1314T>A XP_011544129.1:p.Ser438Arg
XM_011545828.1:c.1047T>A XP_011544130.1:p.Ser349Arg
XM_011545829.1:c.1017T>A XP_011544131.1:p.Ser339Arg
XM_011545830.1:c.1017T>A XP_011544132.1:p.Ser339Arg
XM_011545831.1:c.1017T>A XP_011544133.1:p.Ser339Arg
XM_011545832.1:c.1017T>A XP_011544134.1:p.Ser339Arg
XM_011545833.1:c.1017T>A XP_011544135.1:p.Ser339Arg
XM_011545834.1:c.891T>A XP_011544136.1:p.Ser297Arg
XM_011545826.2:c.1314T>A XP_011544128.1:p.Ser438Arg
XM_011545827.2:c.1314T>A XP_011544129.1:p.Ser438Arg
XM_011545828.2:c.1047T>A XP_011544130.1:p.Ser349Arg
XM_011545830.2:c.1017T>A XP_011544132.1:p.Ser339Arg
XM_011545833.2:c.1017T>A XP_011544135.1:p.Ser339Arg
XM_011545834.2:c.891T>A XP_011544136.1:p.Ser297Arg
XM_017023211.1:c.*349T>A XP_016878700.1:n.*349T>A
NM_000418.4:c.1314T>A MANE Select NP_000409.1:p.Ser438Arg
NM_001257406.2:c.1314T>A NP_001244335.1:p.Ser438Arg
NM_001257407.2:c.1269T>A NP_001244336.1:p.Ser423Arg
NM_001257997.2:c.834T>A NP_001244926.1:p.Ser278Arg