Canonical Allele Identifier: CA395298927

Gene: IL4R

Linked Data

• dbSNP Id: rs2086347468
• gnomAD v3: 16-27362805-A-G
• gnomAD v4: 16-27362805-A-G
• MyVariant Identifiers: chr16:g.27374126A>G (hg19) ; chr16:g.27362805A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362805A>G , CM000678.2:g.27362805A>G	GRCh38
NC_000016.9:g.27374126A>G , CM000678.1:g.27374126A>G	GRCh37
NC_000016.8:g.27281627A>G	NCBI36
NG_012086.1:g.53876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1453A>G MANE Select	ENSP00000379111.2:p.Thr485Ala
ENST00000170630.6:c.1408A>G	ENSP00000170630.3:p.Thr470Ala
ENST00000395762.6:c.1453A>G	ENSP00000379111.2:p.Thr485Ala
ENST00000543915.6:c.1453A>G	ENSP00000441667.2:p.Thr485Ala
ENST00000565352.1:c.230-1298A>G	ENSP00000461268.1:n.230-1298A>G
ENST00000568746.5:c.*1496A>G	ENSP00000455714.1:n.*1496A>G
NM_000418.3:c.1453A>G	NP_000409.1:p.Thr485Ala
NM_001257406.1:c.1453A>G	NP_001244335.1:p.Thr485Ala
NM_001257407.1:c.1408A>G	NP_001244336.1:p.Thr470Ala
NM_001257997.1:c.973A>G	NP_001244926.1:p.Thr325Ala
XM_005255308.2:c.562A>G	XP_005255365.1:p.Thr188Ala
XM_006721043.1:c.502A>G	XP_006721106.1:p.Thr168Ala
XM_011545825.1:c.1453A>G	XP_011544127.1:p.Thr485Ala
XM_011545826.1:c.1453A>G	XP_011544128.1:p.Thr485Ala
XM_011545827.1:c.1453A>G	XP_011544129.1:p.Thr485Ala
XM_011545828.1:c.1186A>G	XP_011544130.1:p.Thr396Ala
XM_011545829.1:c.1156A>G	XP_011544131.1:p.Thr386Ala
XM_011545830.1:c.1156A>G	XP_011544132.1:p.Thr386Ala
XM_011545831.1:c.1156A>G	XP_011544133.1:p.Thr386Ala
XM_011545832.1:c.1156A>G	XP_011544134.1:p.Thr386Ala
XM_011545833.1:c.1156A>G	XP_011544135.1:p.Thr386Ala
XM_011545834.1:c.1030A>G	XP_011544136.1:p.Thr344Ala
XM_011545826.2:c.1453A>G	XP_011544128.1:p.Thr485Ala
XM_011545827.2:c.1453A>G	XP_011544129.1:p.Thr485Ala
XM_011545828.2:c.1186A>G	XP_011544130.1:p.Thr396Ala
XM_011545830.2:c.1156A>G	XP_011544132.1:p.Thr386Ala
XM_011545833.2:c.1156A>G	XP_011544135.1:p.Thr386Ala
XM_011545834.2:c.1030A>G	XP_011544136.1:p.Thr344Ala
XM_017023211.1:c.*488A>G	XP_016878700.1:n.*488A>G
NM_000418.4:c.1453A>G MANE Select	NP_000409.1:p.Thr485Ala
NM_001257406.2:c.1453A>G	NP_001244335.1:p.Thr485Ala
NM_001257407.2:c.1408A>G	NP_001244336.1:p.Thr470Ala
NM_001257997.2:c.973A>G	NP_001244926.1:p.Thr325Ala