Canonical Allele Identifier: CA395308454
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27346608A>T , CM000678.2:g.27346608A>T GRCh38
NC_000016.9:g.27357929A>T , CM000678.1:g.27357929A>T GRCh37
NC_000016.8:g.27265430A>T NCBI36
NG_012086.1:g.37679A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395762.7:c.503A>T MANE Select ENSP00000379111.2:p.Asp168Val
ENST00000170630.6:c.458A>T ENSP00000170630.3:p.Asp153Val
ENST00000395762.6:c.503A>T ENSP00000379111.2:p.Asp168Val
ENST00000543915.6:c.503A>T ENSP00000441667.2:p.Asp168Val
ENST00000565696.1:n.523A>T
ENST00000566318.5:c.361+1588A>T ENSP00000456248.1:n.361+1588A>T
ENST00000568746.5:c.*546A>T ENSP00000455714.1:n.*546A>T
NM_000418.3:c.503A>T NP_000409.1:p.Asp168Val
NM_001257406.1:c.503A>T NP_001244335.1:p.Asp168Val
NM_001257407.1:c.458A>T NP_001244336.1:p.Asp153Val
NM_001257997.1:c.28A>T NP_001244926.1:p.Thr10Ser
XM_011545825.1:c.503A>T XP_011544127.1:p.Asp168Val
XM_011545826.1:c.503A>T XP_011544128.1:p.Asp168Val
XM_011545827.1:c.503A>T XP_011544129.1:p.Asp168Val
XM_011545828.1:c.236A>T XP_011544130.1:p.Asp79Val
XM_011545829.1:c.216+1588A>T XP_011544131.1:n.216+1588A>T
XM_011545830.1:c.216+1588A>T XP_011544132.1:n.216+1588A>T
XM_011545831.1:c.216+1588A>T XP_011544133.1:n.216+1588A>T
XM_011545832.1:c.216+1588A>T XP_011544134.1:n.216+1588A>T
XM_011545833.1:c.216+1588A>T XP_011544135.1:n.216+1588A>T
XM_011545834.1:c.90+1588A>T XP_011544136.1:n.90+1588A>T
XM_011545826.2:c.503A>T XP_011544128.1:p.Asp168Val
XM_011545827.2:c.503A>T XP_011544129.1:p.Asp168Val
XM_011545828.2:c.236A>T XP_011544130.1:p.Asp79Val
XM_011545830.2:c.216+1588A>T XP_011544132.1:n.216+1588A>T
XM_011545833.2:c.216+1588A>T XP_011544135.1:n.216+1588A>T
XM_011545834.2:c.90+1588A>T XP_011544136.1:n.90+1588A>T
XM_017023211.1:c.503A>T XP_016878700.1:p.Asp168Val
NM_000418.4:c.503A>T MANE Select NP_000409.1:p.Asp168Val
NM_001257406.2:c.503A>T NP_001244335.1:p.Asp168Val
NM_001257407.2:c.458A>T NP_001244336.1:p.Asp153Val
NM_001257997.2:c.28A>T NP_001244926.1:p.Thr10Ser