Canonical Allele Identifier: CA395297988

Gene: IL4R

Linked Data

• gnomAD v4: 16-27362574-G-A
• COSMIC: COSM6292737 ; COSM6292738
• MyVariant Identifiers: chr16:g.27373895G>A (hg19) ; chr16:g.27362574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362574G>A , CM000678.2:g.27362574G>A	GRCh38
NC_000016.9:g.27373895G>A , CM000678.1:g.27373895G>A	GRCh37
NC_000016.8:g.27281396G>A	NCBI36
NG_012086.1:g.53645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1222G>A MANE Select	ENSP00000379111.2:p.Glu408Lys
ENST00000170630.6:c.1177G>A	ENSP00000170630.3:p.Glu393Lys
ENST00000395762.6:c.1222G>A	ENSP00000379111.2:p.Glu408Lys
ENST00000543915.6:c.1222G>A	ENSP00000441667.2:p.Glu408Lys
ENST00000565352.1:c.230-1529G>A	ENSP00000461268.1:n.230-1529G>A
ENST00000568746.5:c.*1265G>A	ENSP00000455714.1:n.*1265G>A
NM_000418.3:c.1222G>A	NP_000409.1:p.Glu408Lys
NM_001257406.1:c.1222G>A	NP_001244335.1:p.Glu408Lys
NM_001257407.1:c.1177G>A	NP_001244336.1:p.Glu393Lys
NM_001257997.1:c.742G>A	NP_001244926.1:p.Glu248Lys
XM_005255308.2:c.331G>A	XP_005255365.1:p.Glu111Lys
XM_006721043.1:c.271G>A	XP_006721106.1:p.Glu91Lys
XM_011545825.1:c.1222G>A	XP_011544127.1:p.Glu408Lys
XM_011545826.1:c.1222G>A	XP_011544128.1:p.Glu408Lys
XM_011545827.1:c.1222G>A	XP_011544129.1:p.Glu408Lys
XM_011545828.1:c.955G>A	XP_011544130.1:p.Glu319Lys
XM_011545829.1:c.925G>A	XP_011544131.1:p.Glu309Lys
XM_011545830.1:c.925G>A	XP_011544132.1:p.Glu309Lys
XM_011545831.1:c.925G>A	XP_011544133.1:p.Glu309Lys
XM_011545832.1:c.925G>A	XP_011544134.1:p.Glu309Lys
XM_011545833.1:c.925G>A	XP_011544135.1:p.Glu309Lys
XM_011545834.1:c.799G>A	XP_011544136.1:p.Glu267Lys
XM_011545826.2:c.1222G>A	XP_011544128.1:p.Glu408Lys
XM_011545827.2:c.1222G>A	XP_011544129.1:p.Glu408Lys
XM_011545828.2:c.955G>A	XP_011544130.1:p.Glu319Lys
XM_011545830.2:c.925G>A	XP_011544132.1:p.Glu309Lys
XM_011545833.2:c.925G>A	XP_011544135.1:p.Glu309Lys
XM_011545834.2:c.799G>A	XP_011544136.1:p.Glu267Lys
XM_017023211.1:c.*257G>A	XP_016878700.1:n.*257G>A
NM_000418.4:c.1222G>A MANE Select	NP_000409.1:p.Glu408Lys
NM_001257406.2:c.1222G>A	NP_001244335.1:p.Glu408Lys
NM_001257407.2:c.1177G>A	NP_001244336.1:p.Glu393Lys
NM_001257997.2:c.742G>A	NP_001244926.1:p.Glu248Lys