Canonical Allele Identifier: CA7974578

Gene: IL4R

Linked Data

• dbSNP Id: rs139797178
• ExAC: 16:27374165 C / T
• gnomAD v2: 16-27374165-C-T
• gnomAD v3: 16-27362844-C-T
• gnomAD v4: 16-27362844-C-T
• MyVariant Identifiers: chr16:g.27374165C>T (hg19) ; chr16:g.27362844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362844C>T , CM000678.2:g.27362844C>T	GRCh38
NC_000016.9:g.27374165C>T , CM000678.1:g.27374165C>T	GRCh37
NC_000016.8:g.27281666C>T	NCBI36
NG_012086.1:g.53915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1492C>T MANE Select	ENSP00000379111.2:p.Arg498Cys
ENST00000170630.6:c.1447C>T	ENSP00000170630.3:p.Arg483Cys
ENST00000395762.6:c.1492C>T	ENSP00000379111.2:p.Arg498Cys
ENST00000543915.6:c.1492C>T	ENSP00000441667.2:p.Arg498Cys
ENST00000565352.1:c.230-1259C>T	ENSP00000461268.1:n.230-1259C>T
ENST00000568746.5:c.*1535C>T	ENSP00000455714.1:n.*1535C>T
NM_000418.3:c.1492C>T	NP_000409.1:p.Arg498Cys
NM_001257406.1:c.1492C>T	NP_001244335.1:p.Arg498Cys
NM_001257407.1:c.1447C>T	NP_001244336.1:p.Arg483Cys
NM_001257997.1:c.1012C>T	NP_001244926.1:p.Arg338Cys
XM_005255308.2:c.601C>T	XP_005255365.1:p.Arg201Cys
XM_006721043.1:c.541C>T	XP_006721106.1:p.Arg181Cys
XM_011545825.1:c.1492C>T	XP_011544127.1:p.Arg498Cys
XM_011545826.1:c.1492C>T	XP_011544128.1:p.Arg498Cys
XM_011545827.1:c.1492C>T	XP_011544129.1:p.Arg498Cys
XM_011545828.1:c.1225C>T	XP_011544130.1:p.Arg409Cys
XM_011545829.1:c.1195C>T	XP_011544131.1:p.Arg399Cys
XM_011545830.1:c.1195C>T	XP_011544132.1:p.Arg399Cys
XM_011545831.1:c.1195C>T	XP_011544133.1:p.Arg399Cys
XM_011545832.1:c.1195C>T	XP_011544134.1:p.Arg399Cys
XM_011545833.1:c.1195C>T	XP_011544135.1:p.Arg399Cys
XM_011545834.1:c.1069C>T	XP_011544136.1:p.Arg357Cys
XM_011545826.2:c.1492C>T	XP_011544128.1:p.Arg498Cys
XM_011545827.2:c.1492C>T	XP_011544129.1:p.Arg498Cys
XM_011545828.2:c.1225C>T	XP_011544130.1:p.Arg409Cys
XM_011545830.2:c.1195C>T	XP_011544132.1:p.Arg399Cys
XM_011545833.2:c.1195C>T	XP_011544135.1:p.Arg399Cys
XM_011545834.2:c.1069C>T	XP_011544136.1:p.Arg357Cys
XM_017023211.1:c.*527C>T	XP_016878700.1:n.*527C>T
NM_000418.4:c.1492C>T MANE Select	NP_000409.1:p.Arg498Cys
NM_001257406.2:c.1492C>T	NP_001244335.1:p.Arg498Cys
NM_001257407.2:c.1447C>T	NP_001244336.1:p.Arg483Cys
NM_001257997.2:c.1012C>T	NP_001244926.1:p.Arg338Cys