Canonical Allele Identifier: CA395299016

Gene: IL4R

Linked Data

• dbSNP Id: rs1369857592
• gnomAD v2: 16-27374171-T-C
• gnomAD v4: 16-27362850-T-C
• MyVariant Identifiers: chr16:g.27374171T>C (hg19) ; chr16:g.27362850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362850T>C , CM000678.2:g.27362850T>C	GRCh38
NC_000016.9:g.27374171T>C , CM000678.1:g.27374171T>C	GRCh37
NC_000016.8:g.27281672T>C	NCBI36
NG_012086.1:g.53921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1498T>C MANE Select	ENSP00000379111.2:p.Phe500Leu
ENST00000170630.6:c.1453T>C	ENSP00000170630.3:p.Phe485Leu
ENST00000395762.6:c.1498T>C	ENSP00000379111.2:p.Phe500Leu
ENST00000543915.6:c.1498T>C	ENSP00000441667.2:p.Phe500Leu
ENST00000565352.1:c.230-1253T>C	ENSP00000461268.1:n.230-1253T>C
ENST00000568746.5:c.*1541T>C	ENSP00000455714.1:n.*1541T>C
NM_000418.3:c.1498T>C	NP_000409.1:p.Phe500Leu
NM_001257406.1:c.1498T>C	NP_001244335.1:p.Phe500Leu
NM_001257407.1:c.1453T>C	NP_001244336.1:p.Phe485Leu
NM_001257997.1:c.1018T>C	NP_001244926.1:p.Phe340Leu
XM_005255308.2:c.607T>C	XP_005255365.1:p.Phe203Leu
XM_006721043.1:c.547T>C	XP_006721106.1:p.Phe183Leu
XM_011545825.1:c.1498T>C	XP_011544127.1:p.Phe500Leu
XM_011545826.1:c.1498T>C	XP_011544128.1:p.Phe500Leu
XM_011545827.1:c.1498T>C	XP_011544129.1:p.Phe500Leu
XM_011545828.1:c.1231T>C	XP_011544130.1:p.Phe411Leu
XM_011545829.1:c.1201T>C	XP_011544131.1:p.Phe401Leu
XM_011545830.1:c.1201T>C	XP_011544132.1:p.Phe401Leu
XM_011545831.1:c.1201T>C	XP_011544133.1:p.Phe401Leu
XM_011545832.1:c.1201T>C	XP_011544134.1:p.Phe401Leu
XM_011545833.1:c.1201T>C	XP_011544135.1:p.Phe401Leu
XM_011545834.1:c.1075T>C	XP_011544136.1:p.Phe359Leu
XM_011545826.2:c.1498T>C	XP_011544128.1:p.Phe500Leu
XM_011545827.2:c.1498T>C	XP_011544129.1:p.Phe500Leu
XM_011545828.2:c.1231T>C	XP_011544130.1:p.Phe411Leu
XM_011545830.2:c.1201T>C	XP_011544132.1:p.Phe401Leu
XM_011545833.2:c.1201T>C	XP_011544135.1:p.Phe401Leu
XM_011545834.2:c.1075T>C	XP_011544136.1:p.Phe359Leu
NM_000418.4:c.1498T>C MANE Select	NP_000409.1:p.Phe500Leu
NM_001257406.2:c.1498T>C	NP_001244335.1:p.Phe500Leu
NM_001257407.2:c.1453T>C	NP_001244336.1:p.Phe485Leu
NM_001257997.2:c.1018T>C	NP_001244926.1:p.Phe340Leu