Canonical Allele Identifier: CA719579385

Gene: IL4R

Linked Data

• dbSNP Id: rs1478923823
• gnomAD v3: 16-27364274-AAC-A
• gnomAD v4: 16-27364274-AAC-A
• MyVariant Identifiers: chr16:g.27375596_27375597del (hg19) ; chr16:g.27364275_27364276del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27364278_27364279del , CM000678.2:g.27364278_27364279del	GRCh38
NC_000016.9:g.27375599_27375600del , CM000678.1:g.27375599_27375600del	GRCh37
NC_000016.8:g.27283100_27283101del	NCBI36
NG_012086.1:g.55349_55350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.*448_*449del MANE Select	ENSP00000379111.2:n.*448_*449del
ENST00000170630.6:c.2881_2882del	ENSP00000170630.3:n.2881_2882del
ENST00000395762.6:c.*448_*449del	ENSP00000379111.2:n.*448_*449del
ENST00000543915.6:c.*448_*449del	ENSP00000441667.2:n.*448_*449del
ENST00000565352.1:c.405_406del	ENSP00000461268.1:n.405_406del
NM_000418.3:c.*448_*449del	NP_000409.1:n.*448_*449del
NM_001257406.1:c.*448_*449del	NP_001244335.1:n.*448_*449del
NM_001257407.1:c.*448_*449del	NP_001244336.1:n.*448_*449del
NM_001257997.1:c.*448_*449del	NP_001244926.1:n.*448_*449del
XM_005255308.2:c.*448_*449del	XP_005255365.1:n.*448_*449del
XM_006721043.1:c.*448_*449del	XP_006721106.1:n.*448_*449del
XM_011545825.1:c.*448_*449del	XP_011544127.1:n.*448_*449del
XM_011545826.1:c.*448_*449del	XP_011544128.1:n.*448_*449del
XM_011545827.1:c.*448_*449del	XP_011544129.1:n.*448_*449del
XM_011545828.1:c.*448_*449del	XP_011544130.1:n.*448_*449del
XM_011545829.1:c.*448_*449del	XP_011544131.1:n.*448_*449del
XM_011545830.1:c.*448_*449del	XP_011544132.1:n.*448_*449del
XM_011545831.1:c.*448_*449del	XP_011544133.1:n.*448_*449del
XM_011545832.1:c.*448_*449del	XP_011544134.1:n.*448_*449del
XM_011545833.1:c.*448_*449del	XP_011544135.1:n.*448_*449del
XM_011545834.1:c.*448_*449del	XP_011544136.1:n.*448_*449del
XM_011545826.2:c.*448_*449del	XP_011544128.1:n.*448_*449del
XM_011545827.2:c.*448_*449del	XP_011544129.1:n.*448_*449del
XM_011545828.2:c.*448_*449del	XP_011544130.1:n.*448_*449del
XM_011545830.2:c.*448_*449del	XP_011544132.1:n.*448_*449del
XM_011545833.2:c.*448_*449del	XP_011544135.1:n.*448_*449del
XM_011545834.2:c.*448_*449del	XP_011544136.1:n.*448_*449del
NM_000418.4:c.*448_*449del MANE Select	NP_000409.1:n.*448_*449del
NM_001257406.2:c.*448_*449del	NP_001244335.1:n.*448_*449del
NM_001257407.2:c.*448_*449del	NP_001244336.1:n.*448_*449del
NM_001257997.2:c.*448_*449del	NP_001244926.1:n.*448_*449del