Canonical Allele Identifier: CA395298816

Gene: IL4R

Linked Data

• MyVariant Identifiers: chr16:g.27374073T>A (hg19) ; chr16:g.27362752T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362752T>A , CM000678.2:g.27362752T>A	GRCh38
NC_000016.9:g.27374073T>A , CM000678.1:g.27374073T>A	GRCh37
NC_000016.8:g.27281574T>A	NCBI36
NG_012086.1:g.53823T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1400T>A MANE Select	ENSP00000379111.2:p.Leu467Gln
ENST00000170630.6:c.1355T>A	ENSP00000170630.3:p.Leu452Gln
ENST00000395762.6:c.1400T>A	ENSP00000379111.2:p.Leu467Gln
ENST00000543915.6:c.1400T>A	ENSP00000441667.2:p.Leu467Gln
ENST00000565352.1:c.230-1351T>A	ENSP00000461268.1:n.230-1351T>A
ENST00000568746.5:c.*1443T>A	ENSP00000455714.1:n.*1443T>A
NM_000418.3:c.1400T>A	NP_000409.1:p.Leu467Gln
NM_001257406.1:c.1400T>A	NP_001244335.1:p.Leu467Gln
NM_001257407.1:c.1355T>A	NP_001244336.1:p.Leu452Gln
NM_001257997.1:c.920T>A	NP_001244926.1:p.Leu307Gln
XM_005255308.2:c.509T>A	XP_005255365.1:p.Leu170Gln
XM_006721043.1:c.449T>A	XP_006721106.1:p.Leu150Gln
XM_011545825.1:c.1400T>A	XP_011544127.1:p.Leu467Gln
XM_011545826.1:c.1400T>A	XP_011544128.1:p.Leu467Gln
XM_011545827.1:c.1400T>A	XP_011544129.1:p.Leu467Gln
XM_011545828.1:c.1133T>A	XP_011544130.1:p.Leu378Gln
XM_011545829.1:c.1103T>A	XP_011544131.1:p.Leu368Gln
XM_011545830.1:c.1103T>A	XP_011544132.1:p.Leu368Gln
XM_011545831.1:c.1103T>A	XP_011544133.1:p.Leu368Gln
XM_011545832.1:c.1103T>A	XP_011544134.1:p.Leu368Gln
XM_011545833.1:c.1103T>A	XP_011544135.1:p.Leu368Gln
XM_011545834.1:c.977T>A	XP_011544136.1:p.Leu326Gln
XM_011545826.2:c.1400T>A	XP_011544128.1:p.Leu467Gln
XM_011545827.2:c.1400T>A	XP_011544129.1:p.Leu467Gln
XM_011545828.2:c.1133T>A	XP_011544130.1:p.Leu378Gln
XM_011545830.2:c.1103T>A	XP_011544132.1:p.Leu368Gln
XM_011545833.2:c.1103T>A	XP_011544135.1:p.Leu368Gln
XM_011545834.2:c.977T>A	XP_011544136.1:p.Leu326Gln
XM_017023211.1:c.*435T>A	XP_016878700.1:n.*435T>A
NM_000418.4:c.1400T>A MANE Select	NP_000409.1:p.Leu467Gln
NM_001257406.2:c.1400T>A	NP_001244335.1:p.Leu467Gln
NM_001257407.2:c.1355T>A	NP_001244336.1:p.Leu452Gln
NM_001257997.2:c.920T>A	NP_001244926.1:p.Leu307Gln