Canonical Allele Identifier: CA395308480

Gene: IL4R

Linked Data

• dbSNP Id: rs145473866
• gnomAD v2: 16-27357932-C-A
• MyVariant Identifiers: chr16:g.27357932C>A (hg19) ; chr16:g.27346611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27346611C>A , CM000678.2:g.27346611C>A	GRCh38
NC_000016.9:g.27357932C>A , CM000678.1:g.27357932C>A	GRCh37
NC_000016.8:g.27265433C>A	NCBI36
NG_012086.1:g.37682C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395762.7:c.506C>A MANE Select	ENSP00000379111.2:p.Pro169Gln
ENST00000170630.6:c.461C>A	ENSP00000170630.3:p.Pro154Gln
ENST00000395762.6:c.506C>A	ENSP00000379111.2:p.Pro169Gln
ENST00000543915.6:c.506C>A	ENSP00000441667.2:p.Pro169Gln
ENST00000565696.1:n.526C>A
ENST00000566318.5:c.361+1591C>A	ENSP00000456248.1:n.361+1591C>A
ENST00000568746.5:c.*549C>A	ENSP00000455714.1:n.*549C>A
NM_000418.3:c.506C>A	NP_000409.1:p.Pro169Gln
NM_001257406.1:c.506C>A	NP_001244335.1:p.Pro169Gln
NM_001257407.1:c.461C>A	NP_001244336.1:p.Pro154Gln
NM_001257997.1:c.31C>A	NP_001244926.1:p.Arg11=
XM_011545825.1:c.506C>A	XP_011544127.1:p.Pro169Gln
XM_011545826.1:c.506C>A	XP_011544128.1:p.Pro169Gln
XM_011545827.1:c.506C>A	XP_011544129.1:p.Pro169Gln
XM_011545828.1:c.239C>A	XP_011544130.1:p.Pro80Gln
XM_011545829.1:c.216+1591C>A	XP_011544131.1:n.216+1591C>A
XM_011545830.1:c.216+1591C>A	XP_011544132.1:n.216+1591C>A
XM_011545831.1:c.216+1591C>A	XP_011544133.1:n.216+1591C>A
XM_011545832.1:c.216+1591C>A	XP_011544134.1:n.216+1591C>A
XM_011545833.1:c.216+1591C>A	XP_011544135.1:n.216+1591C>A
XM_011545834.1:c.90+1591C>A	XP_011544136.1:n.90+1591C>A
XM_011545826.2:c.506C>A	XP_011544128.1:p.Pro169Gln
XM_011545827.2:c.506C>A	XP_011544129.1:p.Pro169Gln
XM_011545828.2:c.239C>A	XP_011544130.1:p.Pro80Gln
XM_011545830.2:c.216+1591C>A	XP_011544132.1:n.216+1591C>A
XM_011545833.2:c.216+1591C>A	XP_011544135.1:n.216+1591C>A
XM_011545834.2:c.90+1591C>A	XP_011544136.1:n.90+1591C>A
XM_017023211.1:c.506C>A	XP_016878700.1:p.Pro169Gln
NM_000418.4:c.506C>A MANE Select	NP_000409.1:p.Pro169Gln
NM_001257406.2:c.506C>A	NP_001244335.1:p.Pro169Gln
NM_001257407.2:c.461C>A	NP_001244336.1:p.Pro154Gln
NM_001257997.2:c.31C>A	NP_001244926.1:p.Arg11=