Canonical Allele Identifier: CA494247127

Gene: IL4R

Linked Data

• gnomAD v4: 16-27346612-G-C
• MyVariant Identifiers: chr16:g.27357933G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27346612G>C , CM000678.2:g.27346612G>C	GRCh38
NC_000016.9:g.27357933G>C , CM000678.1:g.27357933G>C	GRCh37
NC_000016.8:g.27265434G>C	NCBI36
NG_012086.1:g.37683G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395762.7:c.507G>C MANE Select	ENSP00000379111.2:p.Pro169=
ENST00000170630.6:c.462G>C	ENSP00000170630.3:p.Pro154=
ENST00000395762.6:c.507G>C	ENSP00000379111.2:p.Pro169=
ENST00000543915.6:c.507G>C	ENSP00000441667.2:p.Pro169=
ENST00000565696.1:n.527G>C
ENST00000566318.5:c.361+1592G>C	ENSP00000456248.1:n.361+1592G>C
ENST00000568746.5:c.*550G>C	ENSP00000455714.1:n.*550G>C
NM_000418.3:c.507G>C	NP_000409.1:p.Pro169=
NM_001257406.1:c.507G>C	NP_001244335.1:p.Pro169=
NM_001257407.1:c.462G>C	NP_001244336.1:p.Pro154=
NM_001257997.1:c.32G>C	NP_001244926.1:p.Arg11Pro
XM_011545825.1:c.507G>C	XP_011544127.1:p.Pro169=
XM_011545826.1:c.507G>C	XP_011544128.1:p.Pro169=
XM_011545827.1:c.507G>C	XP_011544129.1:p.Pro169=
XM_011545828.1:c.240G>C	XP_011544130.1:p.Pro80=
XM_011545829.1:c.216+1592G>C	XP_011544131.1:n.216+1592G>C
XM_011545830.1:c.216+1592G>C	XP_011544132.1:n.216+1592G>C
XM_011545831.1:c.216+1592G>C	XP_011544133.1:n.216+1592G>C
XM_011545832.1:c.216+1592G>C	XP_011544134.1:n.216+1592G>C
XM_011545833.1:c.216+1592G>C	XP_011544135.1:n.216+1592G>C
XM_011545834.1:c.90+1592G>C	XP_011544136.1:n.90+1592G>C
XM_011545826.2:c.507G>C	XP_011544128.1:p.Pro169=
XM_011545827.2:c.507G>C	XP_011544129.1:p.Pro169=
XM_011545828.2:c.240G>C	XP_011544130.1:p.Pro80=
XM_011545830.2:c.216+1592G>C	XP_011544132.1:n.216+1592G>C
XM_011545833.2:c.216+1592G>C	XP_011544135.1:n.216+1592G>C
XM_011545834.2:c.90+1592G>C	XP_011544136.1:n.90+1592G>C
XM_017023211.1:c.507G>C	XP_016878700.1:p.Pro169=
NM_000418.4:c.507G>C MANE Select	NP_000409.1:p.Pro169=
NM_001257406.2:c.507G>C	NP_001244335.1:p.Pro169=
NM_001257407.2:c.462G>C	NP_001244336.1:p.Pro154=
NM_001257997.2:c.32G>C	NP_001244926.1:p.Arg11Pro