Canonical Allele Identifier: CA395298908
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362796C>A , CM000678.2:g.27362796C>A GRCh38
NC_000016.9:g.27374117C>A , CM000678.1:g.27374117C>A GRCh37
NC_000016.8:g.27281618C>A NCBI36
NG_012086.1:g.53867C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1444C>A MANE Select ENSP00000379111.2:p.Leu482Met
ENST00000170630.6:c.1399C>A ENSP00000170630.3:p.Leu467Met
ENST00000395762.6:c.1444C>A ENSP00000379111.2:p.Leu482Met
ENST00000543915.6:c.1444C>A ENSP00000441667.2:p.Leu482Met
ENST00000565352.1:c.230-1307C>A ENSP00000461268.1:n.230-1307C>A
ENST00000568746.5:c.*1487C>A ENSP00000455714.1:n.*1487C>A
NM_000418.3:c.1444C>A NP_000409.1:p.Leu482Met
NM_001257406.1:c.1444C>A NP_001244335.1:p.Leu482Met
NM_001257407.1:c.1399C>A NP_001244336.1:p.Leu467Met
NM_001257997.1:c.964C>A NP_001244926.1:p.Leu322Met
XM_005255308.2:c.553C>A XP_005255365.1:p.Leu185Met
XM_006721043.1:c.493C>A XP_006721106.1:p.Leu165Met
XM_011545825.1:c.1444C>A XP_011544127.1:p.Leu482Met
XM_011545826.1:c.1444C>A XP_011544128.1:p.Leu482Met
XM_011545827.1:c.1444C>A XP_011544129.1:p.Leu482Met
XM_011545828.1:c.1177C>A XP_011544130.1:p.Leu393Met
XM_011545829.1:c.1147C>A XP_011544131.1:p.Leu383Met
XM_011545830.1:c.1147C>A XP_011544132.1:p.Leu383Met
XM_011545831.1:c.1147C>A XP_011544133.1:p.Leu383Met
XM_011545832.1:c.1147C>A XP_011544134.1:p.Leu383Met
XM_011545833.1:c.1147C>A XP_011544135.1:p.Leu383Met
XM_011545834.1:c.1021C>A XP_011544136.1:p.Leu341Met
XM_011545826.2:c.1444C>A XP_011544128.1:p.Leu482Met
XM_011545827.2:c.1444C>A XP_011544129.1:p.Leu482Met
XM_011545828.2:c.1177C>A XP_011544130.1:p.Leu393Met
XM_011545830.2:c.1147C>A XP_011544132.1:p.Leu383Met
XM_011545833.2:c.1147C>A XP_011544135.1:p.Leu383Met
XM_011545834.2:c.1021C>A XP_011544136.1:p.Leu341Met
XM_017023211.1:c.*479C>A XP_016878700.1:n.*479C>A
NM_000418.4:c.1444C>A MANE Select NP_000409.1:p.Leu482Met
NM_001257406.2:c.1444C>A NP_001244335.1:p.Leu482Met
NM_001257407.2:c.1399C>A NP_001244336.1:p.Leu467Met
NM_001257997.2:c.964C>A NP_001244926.1:p.Leu322Met