Canonical Allele Identifier: CA621769808

Gene: IL4R

Linked Data

• dbSNP Id: rs1567338170
• gnomAD v2: 16-27373776-CG-C
• MyVariant Identifiers: chr16:g.27373777del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362457del , CM000678.2:g.27362457del	GRCh38
NC_000016.9:g.27373778del , CM000678.1:g.27373778del	GRCh37
NC_000016.8:g.27281279del	NCBI36
NG_012086.1:g.53528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1105del MANE Select	ENSP00000379111.2:p.Val369TrpfsTer9
ENST00000170630.6:c.1060del	ENSP00000170630.3:p.Val354TrpfsTer9
ENST00000395762.6:c.1105del	ENSP00000379111.2:p.Val369TrpfsTer9
ENST00000543915.6:c.1105del	ENSP00000441667.2:p.Val369TrpfsTer9
ENST00000565352.1:c.230-1646del	ENSP00000461268.1:n.230-1646del
ENST00000565915.5:n.515del
ENST00000568746.5:c.*1148del	ENSP00000455714.1:n.*1148del
NM_000418.3:c.1105del	NP_000409.1:p.Val369TrpfsTer9
NM_001257406.1:c.1105del	NP_001244335.1:p.Val369TrpfsTer9
NM_001257407.1:c.1060del	NP_001244336.1:p.Val354TrpfsTer9
NM_001257997.1:c.625del	NP_001244926.1:p.Val209TrpfsTer9
XM_005255308.2:c.214del	XP_005255365.1:p.Val72TrpfsTer9
XM_006721043.1:c.154del	XP_006721106.1:p.Val52TrpfsTer9
XM_011545825.1:c.1105del	XP_011544127.1:p.Val369TrpfsTer9
XM_011545826.1:c.1105del	XP_011544128.1:p.Val369TrpfsTer9
XM_011545827.1:c.1105del	XP_011544129.1:p.Val369TrpfsTer9
XM_011545828.1:c.838del	XP_011544130.1:p.Val280TrpfsTer9
XM_011545829.1:c.808del	XP_011544131.1:p.Val270TrpfsTer9
XM_011545830.1:c.808del	XP_011544132.1:p.Val270TrpfsTer9
XM_011545831.1:c.808del	XP_011544133.1:p.Val270TrpfsTer9
XM_011545832.1:c.808del	XP_011544134.1:p.Val270TrpfsTer9
XM_011545833.1:c.808del	XP_011544135.1:p.Val270TrpfsTer9
XM_011545834.1:c.682del	XP_011544136.1:p.Val228TrpfsTer9
XM_011545826.2:c.1105del	XP_011544128.1:p.Val369TrpfsTer9
XM_011545827.2:c.1105del	XP_011544129.1:p.Val369TrpfsTer9
XM_011545828.2:c.838del	XP_011544130.1:p.Val280TrpfsTer9
XM_011545830.2:c.808del	XP_011544132.1:p.Val270TrpfsTer9
XM_011545833.2:c.808del	XP_011544135.1:p.Val270TrpfsTer9
XM_011545834.2:c.682del	XP_011544136.1:p.Val228TrpfsTer9
XM_017023211.1:c.*140del	XP_016878700.1:n.*140del
NM_000418.4:c.1105del MANE Select	NP_000409.1:p.Val369TrpfsTer9
NM_001257406.2:c.1105del	NP_001244335.1:p.Val369TrpfsTer9
NM_001257407.2:c.1060del	NP_001244336.1:p.Val354TrpfsTer9
NM_001257997.2:c.625del	NP_001244926.1:p.Val209TrpfsTer9