Canonical Allele Identifier: CA7974592

Gene: IL4R

Linked Data

• dbSNP Id: rs779667516
• ExAC: 16:27374241 T / G
• gnomAD v2: 16-27374241-T-G
• gnomAD v4: 16-27362920-T-G
• MyVariant Identifiers: chr16:g.27374241T>G (hg19) ; chr16:g.27362920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362920T>G , CM000678.2:g.27362920T>G	GRCh38
NC_000016.9:g.27374241T>G , CM000678.1:g.27374241T>G	GRCh37
NC_000016.8:g.27281742T>G	NCBI36
NG_012086.1:g.53991T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1568T>G MANE Select	ENSP00000379111.2:p.Leu523Arg
ENST00000170630.6:c.1523T>G	ENSP00000170630.3:p.Leu508Arg
ENST00000395762.6:c.1568T>G	ENSP00000379111.2:p.Leu523Arg
ENST00000543915.6:c.1568T>G	ENSP00000441667.2:p.Leu523Arg
ENST00000565352.1:c.230-1183T>G	ENSP00000461268.1:n.230-1183T>G
ENST00000568746.5:c.*1611T>G	ENSP00000455714.1:n.*1611T>G
NM_000418.3:c.1568T>G	NP_000409.1:p.Leu523Arg
NM_001257406.1:c.1568T>G	NP_001244335.1:p.Leu523Arg
NM_001257407.1:c.1523T>G	NP_001244336.1:p.Leu508Arg
NM_001257997.1:c.1088T>G	NP_001244926.1:p.Leu363Arg
XM_005255308.2:c.677T>G	XP_005255365.1:p.Leu226Arg
XM_006721043.1:c.617T>G	XP_006721106.1:p.Leu206Arg
XM_011545825.1:c.1568T>G	XP_011544127.1:p.Leu523Arg
XM_011545826.1:c.1568T>G	XP_011544128.1:p.Leu523Arg
XM_011545827.1:c.1568T>G	XP_011544129.1:p.Leu523Arg
XM_011545828.1:c.1301T>G	XP_011544130.1:p.Leu434Arg
XM_011545829.1:c.1271T>G	XP_011544131.1:p.Leu424Arg
XM_011545830.1:c.1271T>G	XP_011544132.1:p.Leu424Arg
XM_011545831.1:c.1271T>G	XP_011544133.1:p.Leu424Arg
XM_011545832.1:c.1271T>G	XP_011544134.1:p.Leu424Arg
XM_011545833.1:c.1271T>G	XP_011544135.1:p.Leu424Arg
XM_011545834.1:c.1145T>G	XP_011544136.1:p.Leu382Arg
XM_011545826.2:c.1568T>G	XP_011544128.1:p.Leu523Arg
XM_011545827.2:c.1568T>G	XP_011544129.1:p.Leu523Arg
XM_011545828.2:c.1301T>G	XP_011544130.1:p.Leu434Arg
XM_011545830.2:c.1271T>G	XP_011544132.1:p.Leu424Arg
XM_011545833.2:c.1271T>G	XP_011544135.1:p.Leu424Arg
XM_011545834.2:c.1145T>G	XP_011544136.1:p.Leu382Arg
NM_000418.4:c.1568T>G MANE Select	NP_000409.1:p.Leu523Arg
NM_001257406.2:c.1568T>G	NP_001244335.1:p.Leu523Arg
NM_001257407.2:c.1523T>G	NP_001244336.1:p.Leu508Arg
NM_001257997.2:c.1088T>G	NP_001244926.1:p.Leu363Arg