Canonical Allele Identifier: CA124190

Gene: IL4R

Linked Data

• ClinVar Variation Id: 14666
• ClinVar RCV Id: RCV003333724
• dbSNP Id: rs1805010
• ExAC: 16:27356203 A / G
• gnomAD v2: 16-27356203-A-G
• gnomAD v3: 16-27344882-A-G
• gnomAD v4: 16-27344882-A-G
• MyVariant Identifiers: chr16:g.27356203A>G (hg19) ; chr16:g.27344882A>G (hg38)
• PubMed: PMID:2278997 ; PMID:2307934 ; PMID:9620765 ; PMID:15712015 ; PMID:16189667

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27344882A>G , CM000678.2:g.27344882A>G	GRCh38
NC_000016.9:g.27356203A>G , CM000678.1:g.27356203A>G	GRCh37
NC_000016.8:g.27263704A>G	NCBI36
NG_012086.1:g.35953A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395762.7:c.223A>G MANE Select	ENSP00000379111.2:p.Ile75Val
ENST00000170630.6:c.178A>G	ENSP00000170630.3:p.Ile60Val
ENST00000395762.6:c.223A>G	ENSP00000379111.2:p.Ile75Val
ENST00000543915.6:c.223A>G	ENSP00000441667.2:p.Ile75Val
ENST00000561946.5:n.403A>G
ENST00000563002.5:c.223A>G	ENSP00000456930.1:p.Ile75Val
ENST00000563787.1:n.544A>G
ENST00000565696.1:n.243A>G
ENST00000566117.5:c.223A>G	ENSP00000455632.1:p.Ile75Val
ENST00000566318.5:c.223A>G	ENSP00000456248.1:p.Ile75Val
ENST00000568746.5:c.*266A>G	ENSP00000455714.1:n.*266A>G
NM_000418.3:c.223A>G	NP_000409.1:p.Ile75Val
NM_001257406.1:c.223A>G	NP_001244335.1:p.Ile75Val
NM_001257407.1:c.178A>G	NP_001244336.1:p.Ile60Val
NM_001257997.1:c.-253A>G	NP_001244926.1:n.-253A>G
XM_011545825.1:c.223A>G	XP_011544127.1:p.Ile75Val
XM_011545826.1:c.223A>G	XP_011544128.1:p.Ile75Val
XM_011545827.1:c.223A>G	XP_011544129.1:p.Ile75Val
XM_011545828.1:c.-45A>G	XP_011544130.1:n.-45A>G
XM_011545829.1:c.78A>G	XP_011544131.1:p.Val26=
XM_011545830.1:c.78A>G	XP_011544132.1:p.Val26=
XM_011545831.1:c.78A>G	XP_011544133.1:p.Val26=
XM_011545832.1:c.78A>G	XP_011544134.1:p.Val26=
XM_011545833.1:c.78A>G	XP_011544135.1:p.Val26=
XM_011545834.1:c.-49A>G	XP_011544136.1:n.-49A>G
XM_011545826.2:c.223A>G	XP_011544128.1:p.Ile75Val
XM_011545827.2:c.223A>G	XP_011544129.1:p.Ile75Val
XM_011545828.2:c.-45A>G	XP_011544130.1:n.-45A>G
XM_011545830.2:c.78A>G	XP_011544132.1:p.Val26=
XM_011545833.2:c.78A>G	XP_011544135.1:p.Val26=
XM_011545834.2:c.-49A>G	XP_011544136.1:n.-49A>G
XM_017023211.1:c.223A>G	XP_016878700.1:p.Ile75Val
NM_000418.4:c.223A>G MANE Select	NP_000409.1:p.Ile75Val
NM_001257406.2:c.223A>G	NP_001244335.1:p.Ile75Val
NM_001257407.2:c.178A>G	NP_001244336.1:p.Ile60Val
NM_001257997.2:c.-253A>G	NP_001244926.1:n.-253A>G