Canonical Allele Identifier: CA494470230

Gene: IL4R

Linked Data

• MyVariant Identifiers: chr16:g.27374242G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362921G>A , CM000678.2:g.27362921G>A	GRCh38
NC_000016.9:g.27374242G>A , CM000678.1:g.27374242G>A	GRCh37
NC_000016.8:g.27281743G>A	NCBI36
NG_012086.1:g.53992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1569G>A MANE Select	ENSP00000379111.2:p.Leu523=
ENST00000170630.6:c.1524G>A	ENSP00000170630.3:p.Leu508=
ENST00000395762.6:c.1569G>A	ENSP00000379111.2:p.Leu523=
ENST00000543915.6:c.1569G>A	ENSP00000441667.2:p.Leu523=
ENST00000565352.1:c.230-1182G>A	ENSP00000461268.1:n.230-1182G>A
ENST00000568746.5:c.*1612G>A	ENSP00000455714.1:n.*1612G>A
NM_000418.3:c.1569G>A	NP_000409.1:p.Leu523=
NM_001257406.1:c.1569G>A	NP_001244335.1:p.Leu523=
NM_001257407.1:c.1524G>A	NP_001244336.1:p.Leu508=
NM_001257997.1:c.1089G>A	NP_001244926.1:p.Leu363=
XM_005255308.2:c.678G>A	XP_005255365.1:p.Leu226=
XM_006721043.1:c.618G>A	XP_006721106.1:p.Leu206=
XM_011545825.1:c.1569G>A	XP_011544127.1:p.Leu523=
XM_011545826.1:c.1569G>A	XP_011544128.1:p.Leu523=
XM_011545827.1:c.1569G>A	XP_011544129.1:p.Leu523=
XM_011545828.1:c.1302G>A	XP_011544130.1:p.Leu434=
XM_011545829.1:c.1272G>A	XP_011544131.1:p.Leu424=
XM_011545830.1:c.1272G>A	XP_011544132.1:p.Leu424=
XM_011545831.1:c.1272G>A	XP_011544133.1:p.Leu424=
XM_011545832.1:c.1272G>A	XP_011544134.1:p.Leu424=
XM_011545833.1:c.1272G>A	XP_011544135.1:p.Leu424=
XM_011545834.1:c.1146G>A	XP_011544136.1:p.Leu382=
XM_011545826.2:c.1569G>A	XP_011544128.1:p.Leu523=
XM_011545827.2:c.1569G>A	XP_011544129.1:p.Leu523=
XM_011545828.2:c.1302G>A	XP_011544130.1:p.Leu434=
XM_011545830.2:c.1272G>A	XP_011544132.1:p.Leu424=
XM_011545833.2:c.1272G>A	XP_011544135.1:p.Leu424=
XM_011545834.2:c.1146G>A	XP_011544136.1:p.Leu382=
NM_000418.4:c.1569G>A MANE Select	NP_000409.1:p.Leu523=
NM_001257406.2:c.1569G>A	NP_001244335.1:p.Leu523=
NM_001257407.2:c.1524G>A	NP_001244336.1:p.Leu508=
NM_001257997.2:c.1089G>A	NP_001244926.1:p.Leu363=