Canonical Allele Identifier: CA395305918
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27344973C>T , CM000678.2:g.27344973C>T GRCh38
NC_000016.9:g.27356294C>T , CM000678.1:g.27356294C>T GRCh37
NC_000016.8:g.27263795C>T NCBI36
NG_012086.1:g.36044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.314C>T MANE Select ENSP00000379111.2:p.Ala105Val
ENST00000170630.6:c.269C>T ENSP00000170630.3:p.Ala90Val
ENST00000395762.6:c.314C>T ENSP00000379111.2:p.Ala105Val
ENST00000543915.6:c.314C>T ENSP00000441667.2:p.Ala105Val
ENST00000561946.5:n.494C>T
ENST00000562968.1:c.66C>T
ENST00000563002.5:c.314C>T ENSP00000456930.1:p.Ala105Val
ENST00000563787.1:n.635C>T
ENST00000565696.1:n.334C>T
ENST00000566117.5:c.314C>T ENSP00000455632.1:p.Ala105Val
ENST00000566318.5:c.314C>T ENSP00000456248.1:p.Ala105Val
ENST00000568746.5:c.*357C>T ENSP00000455714.1:n.*357C>T
NM_000418.3:c.314C>T NP_000409.1:p.Ala105Val
NM_001257406.1:c.314C>T NP_001244335.1:p.Ala105Val
NM_001257407.1:c.269C>T NP_001244336.1:p.Ala90Val
NM_001257997.1:c.-162C>T NP_001244926.1:n.-162C>T
XM_011545825.1:c.314C>T XP_011544127.1:p.Ala105Val
XM_011545826.1:c.314C>T XP_011544128.1:p.Ala105Val
XM_011545827.1:c.314C>T XP_011544129.1:p.Ala105Val
XM_011545828.1:c.47C>T XP_011544130.1:p.Ala16Val
XM_011545829.1:c.169C>T XP_011544131.1:p.Leu57=
XM_011545830.1:c.169C>T XP_011544132.1:p.Leu57=
XM_011545831.1:c.169C>T XP_011544133.1:p.Leu57=
XM_011545832.1:c.169C>T XP_011544134.1:p.Leu57=
XM_011545833.1:c.169C>T XP_011544135.1:p.Leu57=
XM_011545834.1:c.43C>T XP_011544136.1:p.Leu15=
XM_011545826.2:c.314C>T XP_011544128.1:p.Ala105Val
XM_011545827.2:c.314C>T XP_011544129.1:p.Ala105Val
XM_011545828.2:c.47C>T XP_011544130.1:p.Ala16Val
XM_011545830.2:c.169C>T XP_011544132.1:p.Leu57=
XM_011545833.2:c.169C>T XP_011544135.1:p.Leu57=
XM_011545834.2:c.43C>T XP_011544136.1:p.Leu15=
XM_017023211.1:c.314C>T XP_016878700.1:p.Ala105Val
NM_000418.4:c.314C>T MANE Select NP_000409.1:p.Ala105Val
NM_001257406.2:c.314C>T NP_001244335.1:p.Ala105Val
NM_001257407.2:c.269C>T NP_001244336.1:p.Ala90Val
NM_001257997.2:c.-162C>T NP_001244926.1:n.-162C>T