Canonical Allele Identifier: CA124192
Gene: IL4R HGNC NCBI

Linked Data

ClinVar Variation Id: 14667
ClinVar RCV Id: RCV003333725
dbSNP Id: rs1805015

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362859T>C , CM000678.2:g.27362859T>C GRCh38
NC_000016.9:g.27374180T>C , CM000678.1:g.27374180T>C GRCh37
NC_000016.8:g.27281681T>C NCBI36
NG_012086.1:g.53930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1507T>C MANE Select ENSP00000379111.2:p.Ser503Pro
ENST00000170630.6:c.1462T>C ENSP00000170630.3:p.Ser488Pro
ENST00000395762.6:c.1507T>C ENSP00000379111.2:p.Ser503Pro
ENST00000543915.6:c.1507T>C ENSP00000441667.2:p.Ser503Pro
ENST00000565352.1:c.230-1244T>C ENSP00000461268.1:n.230-1244T>C
ENST00000568746.5:c.*1550T>C ENSP00000455714.1:n.*1550T>C
NM_000418.3:c.1507T>C NP_000409.1:p.Ser503Pro
NM_001257406.1:c.1507T>C NP_001244335.1:p.Ser503Pro
NM_001257407.1:c.1462T>C NP_001244336.1:p.Ser488Pro
NM_001257997.1:c.1027T>C NP_001244926.1:p.Ser343Pro
XM_005255308.2:c.616T>C XP_005255365.1:p.Ser206Pro
XM_006721043.1:c.556T>C XP_006721106.1:p.Ser186Pro
XM_011545825.1:c.1507T>C XP_011544127.1:p.Ser503Pro
XM_011545826.1:c.1507T>C XP_011544128.1:p.Ser503Pro
XM_011545827.1:c.1507T>C XP_011544129.1:p.Ser503Pro
XM_011545828.1:c.1240T>C XP_011544130.1:p.Ser414Pro
XM_011545829.1:c.1210T>C XP_011544131.1:p.Ser404Pro
XM_011545830.1:c.1210T>C XP_011544132.1:p.Ser404Pro
XM_011545831.1:c.1210T>C XP_011544133.1:p.Ser404Pro
XM_011545832.1:c.1210T>C XP_011544134.1:p.Ser404Pro
XM_011545833.1:c.1210T>C XP_011544135.1:p.Ser404Pro
XM_011545834.1:c.1084T>C XP_011544136.1:p.Ser362Pro
XM_011545826.2:c.1507T>C XP_011544128.1:p.Ser503Pro
XM_011545827.2:c.1507T>C XP_011544129.1:p.Ser503Pro
XM_011545828.2:c.1240T>C XP_011544130.1:p.Ser414Pro
XM_011545830.2:c.1210T>C XP_011544132.1:p.Ser404Pro
XM_011545833.2:c.1210T>C XP_011544135.1:p.Ser404Pro
XM_011545834.2:c.1084T>C XP_011544136.1:p.Ser362Pro
NM_000418.4:c.1507T>C MANE Select NP_000409.1:p.Ser503Pro
NM_001257406.2:c.1507T>C NP_001244335.1:p.Ser503Pro
NM_001257407.2:c.1462T>C NP_001244336.1:p.Ser488Pro
NM_001257997.2:c.1027T>C NP_001244926.1:p.Ser343Pro