Canonical Allele Identifier: CA395298803

Gene: IL4R

Linked Data

• dbSNP Id: rs1322247859
• gnomAD v4: 16-27362745-C-T
• MyVariant Identifiers: chr16:g.27374066C>T (hg19) ; chr16:g.27362745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362745C>T , CM000678.2:g.27362745C>T	GRCh38
NC_000016.9:g.27374066C>T , CM000678.1:g.27374066C>T	GRCh37
NC_000016.8:g.27281567C>T	NCBI36
NG_012086.1:g.53816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1393C>T MANE Select	ENSP00000379111.2:p.Leu465Phe
ENST00000170630.6:c.1348C>T	ENSP00000170630.3:p.Leu450Phe
ENST00000395762.6:c.1393C>T	ENSP00000379111.2:p.Leu465Phe
ENST00000543915.6:c.1393C>T	ENSP00000441667.2:p.Leu465Phe
ENST00000565352.1:c.230-1358C>T	ENSP00000461268.1:n.230-1358C>T
ENST00000568746.5:c.*1436C>T	ENSP00000455714.1:n.*1436C>T
NM_000418.3:c.1393C>T	NP_000409.1:p.Leu465Phe
NM_001257406.1:c.1393C>T	NP_001244335.1:p.Leu465Phe
NM_001257407.1:c.1348C>T	NP_001244336.1:p.Leu450Phe
NM_001257997.1:c.913C>T	NP_001244926.1:p.Leu305Phe
XM_005255308.2:c.502C>T	XP_005255365.1:p.Leu168Phe
XM_006721043.1:c.442C>T	XP_006721106.1:p.Leu148Phe
XM_011545825.1:c.1393C>T	XP_011544127.1:p.Leu465Phe
XM_011545826.1:c.1393C>T	XP_011544128.1:p.Leu465Phe
XM_011545827.1:c.1393C>T	XP_011544129.1:p.Leu465Phe
XM_011545828.1:c.1126C>T	XP_011544130.1:p.Leu376Phe
XM_011545829.1:c.1096C>T	XP_011544131.1:p.Leu366Phe
XM_011545830.1:c.1096C>T	XP_011544132.1:p.Leu366Phe
XM_011545831.1:c.1096C>T	XP_011544133.1:p.Leu366Phe
XM_011545832.1:c.1096C>T	XP_011544134.1:p.Leu366Phe
XM_011545833.1:c.1096C>T	XP_011544135.1:p.Leu366Phe
XM_011545834.1:c.970C>T	XP_011544136.1:p.Leu324Phe
XM_011545826.2:c.1393C>T	XP_011544128.1:p.Leu465Phe
XM_011545827.2:c.1393C>T	XP_011544129.1:p.Leu465Phe
XM_011545828.2:c.1126C>T	XP_011544130.1:p.Leu376Phe
XM_011545830.2:c.1096C>T	XP_011544132.1:p.Leu366Phe
XM_011545833.2:c.1096C>T	XP_011544135.1:p.Leu366Phe
XM_011545834.2:c.970C>T	XP_011544136.1:p.Leu324Phe
XM_017023211.1:c.*428C>T	XP_016878700.1:n.*428C>T
NM_000418.4:c.1393C>T MANE Select	NP_000409.1:p.Leu465Phe
NM_001257406.2:c.1393C>T	NP_001244335.1:p.Leu465Phe
NM_001257407.2:c.1348C>T	NP_001244336.1:p.Leu450Phe
NM_001257997.2:c.913C>T	NP_001244926.1:p.Leu305Phe