Canonical Allele Identifier: CA395297977
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362568C>G , CM000678.2:g.27362568C>G GRCh38
NC_000016.9:g.27373889C>G , CM000678.1:g.27373889C>G GRCh37
NC_000016.8:g.27281390C>G NCBI36
NG_012086.1:g.53639C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1216C>G MANE Select ENSP00000379111.2:p.Leu406Val
ENST00000170630.6:c.1171C>G ENSP00000170630.3:p.Leu391Val
ENST00000395762.6:c.1216C>G ENSP00000379111.2:p.Leu406Val
ENST00000543915.6:c.1216C>G ENSP00000441667.2:p.Leu406Val
ENST00000565352.1:c.230-1535C>G ENSP00000461268.1:n.230-1535C>G
ENST00000568746.5:c.*1259C>G ENSP00000455714.1:n.*1259C>G
NM_000418.3:c.1216C>G NP_000409.1:p.Leu406Val
NM_001257406.1:c.1216C>G NP_001244335.1:p.Leu406Val
NM_001257407.1:c.1171C>G NP_001244336.1:p.Leu391Val
NM_001257997.1:c.736C>G NP_001244926.1:p.Leu246Val
XM_005255308.2:c.325C>G XP_005255365.1:p.Leu109Val
XM_006721043.1:c.265C>G XP_006721106.1:p.Leu89Val
XM_011545825.1:c.1216C>G XP_011544127.1:p.Leu406Val
XM_011545826.1:c.1216C>G XP_011544128.1:p.Leu406Val
XM_011545827.1:c.1216C>G XP_011544129.1:p.Leu406Val
XM_011545828.1:c.949C>G XP_011544130.1:p.Leu317Val
XM_011545829.1:c.919C>G XP_011544131.1:p.Leu307Val
XM_011545830.1:c.919C>G XP_011544132.1:p.Leu307Val
XM_011545831.1:c.919C>G XP_011544133.1:p.Leu307Val
XM_011545832.1:c.919C>G XP_011544134.1:p.Leu307Val
XM_011545833.1:c.919C>G XP_011544135.1:p.Leu307Val
XM_011545834.1:c.793C>G XP_011544136.1:p.Leu265Val
XM_011545826.2:c.1216C>G XP_011544128.1:p.Leu406Val
XM_011545827.2:c.1216C>G XP_011544129.1:p.Leu406Val
XM_011545828.2:c.949C>G XP_011544130.1:p.Leu317Val
XM_011545830.2:c.919C>G XP_011544132.1:p.Leu307Val
XM_011545833.2:c.919C>G XP_011544135.1:p.Leu307Val
XM_011545834.2:c.793C>G XP_011544136.1:p.Leu265Val
XM_017023211.1:c.*251C>G XP_016878700.1:n.*251C>G
NM_000418.4:c.1216C>G MANE Select NP_000409.1:p.Leu406Val
NM_001257406.2:c.1216C>G NP_001244335.1:p.Leu406Val
NM_001257407.2:c.1171C>G NP_001244336.1:p.Leu391Val
NM_001257997.2:c.736C>G NP_001244926.1:p.Leu246Val