Canonical Allele Identifier: CA7974263

Gene: IL4R

Linked Data

• dbSNP Id: rs376294283
• ExAC: 16:27357939 T / C
• gnomAD v3: 16-27346618-T-C
• gnomAD v4: 16-27346618-T-C
• MyVariant Identifiers: chr16:g.27357939T>C (hg19) ; chr16:g.27346618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27346618T>C , CM000678.2:g.27346618T>C	GRCh38
NC_000016.9:g.27357939T>C , CM000678.1:g.27357939T>C	GRCh37
NC_000016.8:g.27265440T>C	NCBI36
NG_012086.1:g.37689T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395762.7:c.513T>C MANE Select	ENSP00000379111.2:p.Asp171=
ENST00000170630.6:c.468T>C	ENSP00000170630.3:p.Asp156=
ENST00000395762.6:c.513T>C	ENSP00000379111.2:p.Asp171=
ENST00000543915.6:c.513T>C	ENSP00000441667.2:p.Asp171=
ENST00000565696.1:n.533T>C
ENST00000566318.5:c.361+1598T>C	ENSP00000456248.1:n.361+1598T>C
ENST00000568746.5:c.*556T>C	ENSP00000455714.1:n.*556T>C
NM_000418.3:c.513T>C	NP_000409.1:p.Asp171=
NM_001257406.1:c.513T>C	NP_001244335.1:p.Asp171=
NM_001257407.1:c.468T>C	NP_001244336.1:p.Asp156=
NM_001257997.1:c.38T>C	NP_001244926.1:p.Ile13Thr
XM_011545825.1:c.513T>C	XP_011544127.1:p.Asp171=
XM_011545826.1:c.513T>C	XP_011544128.1:p.Asp171=
XM_011545827.1:c.513T>C	XP_011544129.1:p.Asp171=
XM_011545828.1:c.246T>C	XP_011544130.1:p.Asp82=
XM_011545829.1:c.216+1598T>C	XP_011544131.1:n.216+1598T>C
XM_011545830.1:c.216+1598T>C	XP_011544132.1:n.216+1598T>C
XM_011545831.1:c.216+1598T>C	XP_011544133.1:n.216+1598T>C
XM_011545832.1:c.216+1598T>C	XP_011544134.1:n.216+1598T>C
XM_011545833.1:c.216+1598T>C	XP_011544135.1:n.216+1598T>C
XM_011545834.1:c.90+1598T>C	XP_011544136.1:n.90+1598T>C
XM_011545826.2:c.513T>C	XP_011544128.1:p.Asp171=
XM_011545827.2:c.513T>C	XP_011544129.1:p.Asp171=
XM_011545828.2:c.246T>C	XP_011544130.1:p.Asp82=
XM_011545830.2:c.216+1598T>C	XP_011544132.1:n.216+1598T>C
XM_011545833.2:c.216+1598T>C	XP_011544135.1:n.216+1598T>C
XM_011545834.2:c.90+1598T>C	XP_011544136.1:n.90+1598T>C
XM_017023211.1:c.513T>C	XP_016878700.1:p.Asp171=
NM_000418.4:c.513T>C MANE Select	NP_000409.1:p.Asp171=
NM_001257406.2:c.513T>C	NP_001244335.1:p.Asp171=
NM_001257407.2:c.468T>C	NP_001244336.1:p.Asp156=
NM_001257997.2:c.38T>C	NP_001244926.1:p.Ile13Thr