Canonical Allele Identifier: CA7974513

Gene: IL4R

Linked Data

• dbSNP Id: rs146853841
• ExAC: 16:27373873 G / A
• gnomAD v2: 16-27373873-G-A
• gnomAD v3: 16-27362552-G-A
• gnomAD v4: 16-27362552-G-A
• MyVariant Identifiers: chr16:g.27373873G>A (hg19) ; chr16:g.27362552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362552G>A , CM000678.2:g.27362552G>A	GRCh38
NC_000016.9:g.27373873G>A , CM000678.1:g.27373873G>A	GRCh37
NC_000016.8:g.27281374G>A	NCBI36
NG_012086.1:g.53623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395762.7:c.1200G>A MANE Select	ENSP00000379111.2:p.Glu400=
ENST00000170630.6:c.1155G>A	ENSP00000170630.3:p.Glu385=
ENST00000395762.6:c.1200G>A	ENSP00000379111.2:p.Glu400=
ENST00000543915.6:c.1200G>A	ENSP00000441667.2:p.Glu400=
ENST00000565352.1:c.230-1551G>A	ENSP00000461268.1:n.230-1551G>A
ENST00000568746.5:c.*1243G>A	ENSP00000455714.1:n.*1243G>A
NM_000418.3:c.1200G>A	NP_000409.1:p.Glu400=
NM_001257406.1:c.1200G>A	NP_001244335.1:p.Glu400=
NM_001257407.1:c.1155G>A	NP_001244336.1:p.Glu385=
NM_001257997.1:c.720G>A	NP_001244926.1:p.Glu240=
XM_005255308.2:c.309G>A	XP_005255365.1:p.Glu103=
XM_006721043.1:c.249G>A	XP_006721106.1:p.Glu83=
XM_011545825.1:c.1200G>A	XP_011544127.1:p.Glu400=
XM_011545826.1:c.1200G>A	XP_011544128.1:p.Glu400=
XM_011545827.1:c.1200G>A	XP_011544129.1:p.Glu400=
XM_011545828.1:c.933G>A	XP_011544130.1:p.Glu311=
XM_011545829.1:c.903G>A	XP_011544131.1:p.Glu301=
XM_011545830.1:c.903G>A	XP_011544132.1:p.Glu301=
XM_011545831.1:c.903G>A	XP_011544133.1:p.Glu301=
XM_011545832.1:c.903G>A	XP_011544134.1:p.Glu301=
XM_011545833.1:c.903G>A	XP_011544135.1:p.Glu301=
XM_011545834.1:c.777G>A	XP_011544136.1:p.Glu259=
XM_011545826.2:c.1200G>A	XP_011544128.1:p.Glu400=
XM_011545827.2:c.1200G>A	XP_011544129.1:p.Glu400=
XM_011545828.2:c.933G>A	XP_011544130.1:p.Glu311=
XM_011545830.2:c.903G>A	XP_011544132.1:p.Glu301=
XM_011545833.2:c.903G>A	XP_011544135.1:p.Glu301=
XM_011545834.2:c.777G>A	XP_011544136.1:p.Glu259=
XM_017023211.1:c.*235G>A	XP_016878700.1:n.*235G>A
NM_000418.4:c.1200G>A MANE Select	NP_000409.1:p.Glu400=
NM_001257406.2:c.1200G>A	NP_001244335.1:p.Glu400=
NM_001257407.2:c.1155G>A	NP_001244336.1:p.Glu385=
NM_001257997.2:c.720G>A	NP_001244926.1:p.Glu240=