Canonical Allele Identifier: CA395297577

Gene: IL4R

Linked Data

• dbSNP Id: rs1419694904
• gnomAD v3: 16-27362444-G-T
• gnomAD v4: 16-27362444-G-T
• MyVariant Identifiers: chr16:g.27373765G>T (hg19) ; chr16:g.27362444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362444G>T , CM000678.2:g.27362444G>T	GRCh38
NC_000016.9:g.27373765G>T , CM000678.1:g.27373765G>T	GRCh37
NC_000016.8:g.27281266G>T	NCBI36
NG_012086.1:g.53515G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1092G>T MANE Select	ENSP00000379111.2:p.Leu364Phe
ENST00000170630.6:c.1047G>T	ENSP00000170630.3:p.Leu349Phe
ENST00000395762.6:c.1092G>T	ENSP00000379111.2:p.Leu364Phe
ENST00000543915.6:c.1092G>T	ENSP00000441667.2:p.Leu364Phe
ENST00000565352.1:c.229+1651G>T	ENSP00000461268.1:n.229+1651G>T
ENST00000565915.5:n.502G>T
ENST00000568746.5:c.*1135G>T	ENSP00000455714.1:n.*1135G>T
NM_000418.3:c.1092G>T	NP_000409.1:p.Leu364Phe
NM_001257406.1:c.1092G>T	NP_001244335.1:p.Leu364Phe
NM_001257407.1:c.1047G>T	NP_001244336.1:p.Leu349Phe
NM_001257997.1:c.612G>T	NP_001244926.1:p.Leu204Phe
XM_005255308.2:c.201G>T	XP_005255365.1:p.Leu67Phe
XM_006721043.1:c.141G>T	XP_006721106.1:p.Leu47Phe
XM_011545825.1:c.1092G>T	XP_011544127.1:p.Leu364Phe
XM_011545826.1:c.1092G>T	XP_011544128.1:p.Leu364Phe
XM_011545827.1:c.1092G>T	XP_011544129.1:p.Leu364Phe
XM_011545828.1:c.825G>T	XP_011544130.1:p.Leu275Phe
XM_011545829.1:c.795G>T	XP_011544131.1:p.Leu265Phe
XM_011545830.1:c.795G>T	XP_011544132.1:p.Leu265Phe
XM_011545831.1:c.795G>T	XP_011544133.1:p.Leu265Phe
XM_011545832.1:c.795G>T	XP_011544134.1:p.Leu265Phe
XM_011545833.1:c.795G>T	XP_011544135.1:p.Leu265Phe
XM_011545834.1:c.669G>T	XP_011544136.1:p.Leu223Phe
XM_011545826.2:c.1092G>T	XP_011544128.1:p.Leu364Phe
XM_011545827.2:c.1092G>T	XP_011544129.1:p.Leu364Phe
XM_011545828.2:c.825G>T	XP_011544130.1:p.Leu275Phe
XM_011545830.2:c.795G>T	XP_011544132.1:p.Leu265Phe
XM_011545833.2:c.795G>T	XP_011544135.1:p.Leu265Phe
XM_011545834.2:c.669G>T	XP_011544136.1:p.Leu223Phe
XM_017023211.1:c.*127G>T	XP_016878700.1:n.*127G>T
NM_000418.4:c.1092G>T MANE Select	NP_000409.1:p.Leu364Phe
NM_001257406.2:c.1092G>T	NP_001244335.1:p.Leu364Phe
NM_001257407.2:c.1047G>T	NP_001244336.1:p.Leu349Phe
NM_001257997.2:c.612G>T	NP_001244926.1:p.Leu204Phe