Canonical Allele Identifier: CA7974590

Gene: IL4R

Linked Data

• ClinVar Variation Id: 2355062
• ClinVar RCV Id: RCV004197550
• dbSNP Id: rs139725604
• ExAC: 16:27374238 A / G
• gnomAD v2: 16-27374238-A-G
• gnomAD v3: 16-27362917-A-G
• gnomAD v4: 16-27362917-A-G
• MyVariant Identifiers: chr16:g.27374238A>G (hg19) ; chr16:g.27362917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362917A>G , CM000678.2:g.27362917A>G	GRCh38
NC_000016.9:g.27374238A>G , CM000678.1:g.27374238A>G	GRCh37
NC_000016.8:g.27281739A>G	NCBI36
NG_012086.1:g.53988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1565A>G MANE Select	ENSP00000379111.2:p.His522Arg
ENST00000170630.6:c.1520A>G	ENSP00000170630.3:p.His507Arg
ENST00000395762.6:c.1565A>G	ENSP00000379111.2:p.His522Arg
ENST00000543915.6:c.1565A>G	ENSP00000441667.2:p.His522Arg
ENST00000565352.1:c.230-1186A>G	ENSP00000461268.1:n.230-1186A>G
ENST00000568746.5:c.*1608A>G	ENSP00000455714.1:n.*1608A>G
NM_000418.3:c.1565A>G	NP_000409.1:p.His522Arg
NM_001257406.1:c.1565A>G	NP_001244335.1:p.His522Arg
NM_001257407.1:c.1520A>G	NP_001244336.1:p.His507Arg
NM_001257997.1:c.1085A>G	NP_001244926.1:p.His362Arg
XM_005255308.2:c.674A>G	XP_005255365.1:p.His225Arg
XM_006721043.1:c.614A>G	XP_006721106.1:p.His205Arg
XM_011545825.1:c.1565A>G	XP_011544127.1:p.His522Arg
XM_011545826.1:c.1565A>G	XP_011544128.1:p.His522Arg
XM_011545827.1:c.1565A>G	XP_011544129.1:p.His522Arg
XM_011545828.1:c.1298A>G	XP_011544130.1:p.His433Arg
XM_011545829.1:c.1268A>G	XP_011544131.1:p.His423Arg
XM_011545830.1:c.1268A>G	XP_011544132.1:p.His423Arg
XM_011545831.1:c.1268A>G	XP_011544133.1:p.His423Arg
XM_011545832.1:c.1268A>G	XP_011544134.1:p.His423Arg
XM_011545833.1:c.1268A>G	XP_011544135.1:p.His423Arg
XM_011545834.1:c.1142A>G	XP_011544136.1:p.His381Arg
XM_011545826.2:c.1565A>G	XP_011544128.1:p.His522Arg
XM_011545827.2:c.1565A>G	XP_011544129.1:p.His522Arg
XM_011545828.2:c.1298A>G	XP_011544130.1:p.His433Arg
XM_011545830.2:c.1268A>G	XP_011544132.1:p.His423Arg
XM_011545833.2:c.1268A>G	XP_011544135.1:p.His423Arg
XM_011545834.2:c.1142A>G	XP_011544136.1:p.His381Arg
NM_000418.4:c.1565A>G MANE Select	NP_000409.1:p.His522Arg
NM_001257406.2:c.1565A>G	NP_001244335.1:p.His522Arg
NM_001257407.2:c.1520A>G	NP_001244336.1:p.His507Arg
NM_001257997.2:c.1085A>G	NP_001244926.1:p.His362Arg