Canonical Allele Identifier: CA395299045

Gene: IL4R

Linked Data

• gnomAD v4: 16-27362863-T-C
• MyVariant Identifiers: chr16:g.27374184T>C (hg19) ; chr16:g.27362863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362863T>C , CM000678.2:g.27362863T>C	GRCh38
NC_000016.9:g.27374184T>C , CM000678.1:g.27374184T>C	GRCh37
NC_000016.8:g.27281685T>C	NCBI36
NG_012086.1:g.53934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1511T>C MANE Select	ENSP00000379111.2:p.Leu504Pro
ENST00000170630.6:c.1466T>C	ENSP00000170630.3:p.Leu489Pro
ENST00000395762.6:c.1511T>C	ENSP00000379111.2:p.Leu504Pro
ENST00000543915.6:c.1511T>C	ENSP00000441667.2:p.Leu504Pro
ENST00000565352.1:c.230-1240T>C	ENSP00000461268.1:n.230-1240T>C
ENST00000568746.5:c.*1554T>C	ENSP00000455714.1:n.*1554T>C
NM_000418.3:c.1511T>C	NP_000409.1:p.Leu504Pro
NM_001257406.1:c.1511T>C	NP_001244335.1:p.Leu504Pro
NM_001257407.1:c.1466T>C	NP_001244336.1:p.Leu489Pro
NM_001257997.1:c.1031T>C	NP_001244926.1:p.Leu344Pro
XM_005255308.2:c.620T>C	XP_005255365.1:p.Leu207Pro
XM_006721043.1:c.560T>C	XP_006721106.1:p.Leu187Pro
XM_011545825.1:c.1511T>C	XP_011544127.1:p.Leu504Pro
XM_011545826.1:c.1511T>C	XP_011544128.1:p.Leu504Pro
XM_011545827.1:c.1511T>C	XP_011544129.1:p.Leu504Pro
XM_011545828.1:c.1244T>C	XP_011544130.1:p.Leu415Pro
XM_011545829.1:c.1214T>C	XP_011544131.1:p.Leu405Pro
XM_011545830.1:c.1214T>C	XP_011544132.1:p.Leu405Pro
XM_011545831.1:c.1214T>C	XP_011544133.1:p.Leu405Pro
XM_011545832.1:c.1214T>C	XP_011544134.1:p.Leu405Pro
XM_011545833.1:c.1214T>C	XP_011544135.1:p.Leu405Pro
XM_011545834.1:c.1088T>C	XP_011544136.1:p.Leu363Pro
XM_011545826.2:c.1511T>C	XP_011544128.1:p.Leu504Pro
XM_011545827.2:c.1511T>C	XP_011544129.1:p.Leu504Pro
XM_011545828.2:c.1244T>C	XP_011544130.1:p.Leu415Pro
XM_011545830.2:c.1214T>C	XP_011544132.1:p.Leu405Pro
XM_011545833.2:c.1214T>C	XP_011544135.1:p.Leu405Pro
XM_011545834.2:c.1088T>C	XP_011544136.1:p.Leu363Pro
NM_000418.4:c.1511T>C MANE Select	NP_000409.1:p.Leu504Pro
NM_001257406.2:c.1511T>C	NP_001244335.1:p.Leu504Pro
NM_001257407.2:c.1466T>C	NP_001244336.1:p.Leu489Pro
NM_001257997.2:c.1031T>C	NP_001244926.1:p.Leu344Pro