Canonical Allele Identifier: CA7974530
Gene: IL4R HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1805012

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362643T>C , CM000678.2:g.27362643T>C GRCh38
NC_000016.9:g.27373964T>C , CM000678.1:g.27373964T>C GRCh37
NC_000016.8:g.27281465T>C NCBI36
NG_012086.1:g.53714T>C

Transcript Alleles

HGVS Amino-acid change
NM_000418.3:c.1291T>C VV NP_000409.1:p.Cys431Arg
NM_001257406.1:c.1291T>C VV NP_001244335.1:p.Cys431Arg
NM_001257407.1:c.1246T>C VV NP_001244336.1:p.Cys416Arg
NM_001257997.1:c.811T>C VV NP_001244926.1:p.Cys271Arg
XM_005255308.2:c.400T>C XP_005255365.1:p.Cys134Arg
XM_006721043.1:c.340T>C XP_006721106.1:p.Cys114Arg
XM_011545825.1:c.1291T>C XP_011544127.1:p.Cys431Arg
XM_011545826.1:c.1291T>C XP_011544128.1:p.Cys431Arg
XM_011545827.1:c.1291T>C XP_011544129.1:p.Cys431Arg
XM_011545828.1:c.1024T>C XP_011544130.1:p.Cys342Arg
XM_011545829.1:c.994T>C XP_011544131.1:p.Cys332Arg
XM_011545830.1:c.994T>C XP_011544132.1:p.Cys332Arg
XM_011545831.1:c.994T>C XP_011544133.1:p.Cys332Arg
XM_011545832.1:c.994T>C XP_011544134.1:p.Cys332Arg
XM_011545833.1:c.994T>C XP_011544135.1:p.Cys332Arg
XM_011545834.1:c.868T>C XP_011544136.1:p.Cys290Arg
XM_011545826.2:c.1291T>C XP_011544128.1:p.Cys431Arg
XM_011545827.2:c.1291T>C XP_011544129.1:p.Cys431Arg
XM_011545828.2:c.1024T>C XP_011544130.1:p.Cys342Arg
XM_011545830.2:c.994T>C XP_011544132.1:p.Cys332Arg
XM_011545833.2:c.994T>C XP_011544135.1:p.Cys332Arg
XM_011545834.2:c.868T>C XP_011544136.1:p.Cys290Arg
XM_017023211.1:c.*326T>C XP_016878700.1:p.=
NM_000418.4:c.1291T>C VV MANE Preferred NP_000409.1:p.Cys431Arg
ENST00000170630.6:n.1246T>C ENSP00000170630.3:p.Cys416Arg
ENST00000395762.6:c.1291T>C ENSP00000379111.2:p.Cys431Arg
ENST00000543915.6:c.1291T>C ENSP00000441667.2:p.Cys431Arg
ENST00000565352.1:n.230-1460T>C ENSP00000461268.1:p.=
ENST00000568746.5:c.*1334T>C ENSP00000455714.1:p.=