Canonical Allele Identifier: CA395299106

Gene: IL4R

Linked Data

• MyVariant Identifiers: chr16:g.27374211T>G (hg19) ; chr16:g.27362890T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362890T>G , CM000678.2:g.27362890T>G	GRCh38
NC_000016.9:g.27374211T>G , CM000678.1:g.27374211T>G	GRCh37
NC_000016.8:g.27281712T>G	NCBI36
NG_012086.1:g.53961T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1538T>G MANE Select	ENSP00000379111.2:p.Leu513Arg
ENST00000170630.6:c.1493T>G	ENSP00000170630.3:p.Leu498Arg
ENST00000395762.6:c.1538T>G	ENSP00000379111.2:p.Leu513Arg
ENST00000543915.6:c.1538T>G	ENSP00000441667.2:p.Leu513Arg
ENST00000565352.1:c.230-1213T>G	ENSP00000461268.1:n.230-1213T>G
ENST00000568746.5:c.*1581T>G	ENSP00000455714.1:n.*1581T>G
NM_000418.3:c.1538T>G	NP_000409.1:p.Leu513Arg
NM_001257406.1:c.1538T>G	NP_001244335.1:p.Leu513Arg
NM_001257407.1:c.1493T>G	NP_001244336.1:p.Leu498Arg
NM_001257997.1:c.1058T>G	NP_001244926.1:p.Leu353Arg
XM_005255308.2:c.647T>G	XP_005255365.1:p.Leu216Arg
XM_006721043.1:c.587T>G	XP_006721106.1:p.Leu196Arg
XM_011545825.1:c.1538T>G	XP_011544127.1:p.Leu513Arg
XM_011545826.1:c.1538T>G	XP_011544128.1:p.Leu513Arg
XM_011545827.1:c.1538T>G	XP_011544129.1:p.Leu513Arg
XM_011545828.1:c.1271T>G	XP_011544130.1:p.Leu424Arg
XM_011545829.1:c.1241T>G	XP_011544131.1:p.Leu414Arg
XM_011545830.1:c.1241T>G	XP_011544132.1:p.Leu414Arg
XM_011545831.1:c.1241T>G	XP_011544133.1:p.Leu414Arg
XM_011545832.1:c.1241T>G	XP_011544134.1:p.Leu414Arg
XM_011545833.1:c.1241T>G	XP_011544135.1:p.Leu414Arg
XM_011545834.1:c.1115T>G	XP_011544136.1:p.Leu372Arg
XM_011545826.2:c.1538T>G	XP_011544128.1:p.Leu513Arg
XM_011545827.2:c.1538T>G	XP_011544129.1:p.Leu513Arg
XM_011545828.2:c.1271T>G	XP_011544130.1:p.Leu424Arg
XM_011545830.2:c.1241T>G	XP_011544132.1:p.Leu414Arg
XM_011545833.2:c.1241T>G	XP_011544135.1:p.Leu414Arg
XM_011545834.2:c.1115T>G	XP_011544136.1:p.Leu372Arg
NM_000418.4:c.1538T>G MANE Select	NP_000409.1:p.Leu513Arg
NM_001257406.2:c.1538T>G	NP_001244335.1:p.Leu513Arg
NM_001257407.2:c.1493T>G	NP_001244336.1:p.Leu498Arg
NM_001257997.2:c.1058T>G	NP_001244926.1:p.Leu353Arg