Canonical Allele Identifier: CA7974572

Gene: IL4R

Linked Data

• ClinVar Variation Id: 776995
• ClinVar RCV Id: RCV000957391
• dbSNP Id: rs35606110
• ExAC: 16:27374147 G / A
• gnomAD v2: 16-27374147-G-A
• gnomAD v3: 16-27362826-G-A
• gnomAD v4: 16-27362826-G-A
• MyVariant Identifiers: chr16:g.27374147G>A (hg19) ; chr16:g.27362826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362826G>A , CM000678.2:g.27362826G>A	GRCh38
NC_000016.9:g.27374147G>A , CM000678.1:g.27374147G>A	GRCh37
NC_000016.8:g.27281648G>A	NCBI36
NG_012086.1:g.53897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1474G>A MANE Select	ENSP00000379111.2:p.Ala492Thr
ENST00000170630.6:c.1429G>A	ENSP00000170630.3:p.Ala477Thr
ENST00000395762.6:c.1474G>A	ENSP00000379111.2:p.Ala492Thr
ENST00000543915.6:c.1474G>A	ENSP00000441667.2:p.Ala492Thr
ENST00000565352.1:c.230-1277G>A	ENSP00000461268.1:n.230-1277G>A
ENST00000568746.5:c.*1517G>A	ENSP00000455714.1:n.*1517G>A
NM_000418.3:c.1474G>A	NP_000409.1:p.Ala492Thr
NM_001257406.1:c.1474G>A	NP_001244335.1:p.Ala492Thr
NM_001257407.1:c.1429G>A	NP_001244336.1:p.Ala477Thr
NM_001257997.1:c.994G>A	NP_001244926.1:p.Ala332Thr
XM_005255308.2:c.583G>A	XP_005255365.1:p.Ala195Thr
XM_006721043.1:c.523G>A	XP_006721106.1:p.Ala175Thr
XM_011545825.1:c.1474G>A	XP_011544127.1:p.Ala492Thr
XM_011545826.1:c.1474G>A	XP_011544128.1:p.Ala492Thr
XM_011545827.1:c.1474G>A	XP_011544129.1:p.Ala492Thr
XM_011545828.1:c.1207G>A	XP_011544130.1:p.Ala403Thr
XM_011545829.1:c.1177G>A	XP_011544131.1:p.Ala393Thr
XM_011545830.1:c.1177G>A	XP_011544132.1:p.Ala393Thr
XM_011545831.1:c.1177G>A	XP_011544133.1:p.Ala393Thr
XM_011545832.1:c.1177G>A	XP_011544134.1:p.Ala393Thr
XM_011545833.1:c.1177G>A	XP_011544135.1:p.Ala393Thr
XM_011545834.1:c.1051G>A	XP_011544136.1:p.Ala351Thr
XM_011545826.2:c.1474G>A	XP_011544128.1:p.Ala492Thr
XM_011545827.2:c.1474G>A	XP_011544129.1:p.Ala492Thr
XM_011545828.2:c.1207G>A	XP_011544130.1:p.Ala403Thr
XM_011545830.2:c.1177G>A	XP_011544132.1:p.Ala393Thr
XM_011545833.2:c.1177G>A	XP_011544135.1:p.Ala393Thr
XM_011545834.2:c.1051G>A	XP_011544136.1:p.Ala351Thr
XM_017023211.1:c.*509G>A	XP_016878700.1:n.*509G>A
NM_000418.4:c.1474G>A MANE Select	NP_000409.1:p.Ala492Thr
NM_001257406.2:c.1474G>A	NP_001244335.1:p.Ala492Thr
NM_001257407.2:c.1429G>A	NP_001244336.1:p.Ala477Thr
NM_001257997.2:c.994G>A	NP_001244926.1:p.Ala332Thr