Canonical Allele Identifier: CA395299121

Gene: IL4R

Linked Data

• MyVariant Identifiers: chr16:g.27374220A>C (hg19) ; chr16:g.27362899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362899A>C , CM000678.2:g.27362899A>C	GRCh38
NC_000016.9:g.27374220A>C , CM000678.1:g.27374220A>C	GRCh37
NC_000016.8:g.27281721A>C	NCBI36
NG_012086.1:g.53970A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1547A>C MANE Select	ENSP00000379111.2:p.Asp516Ala
ENST00000170630.6:c.1502A>C	ENSP00000170630.3:p.Asp501Ala
ENST00000395762.6:c.1547A>C	ENSP00000379111.2:p.Asp516Ala
ENST00000543915.6:c.1547A>C	ENSP00000441667.2:p.Asp516Ala
ENST00000565352.1:c.230-1204A>C	ENSP00000461268.1:n.230-1204A>C
ENST00000568746.5:c.*1590A>C	ENSP00000455714.1:n.*1590A>C
NM_000418.3:c.1547A>C	NP_000409.1:p.Asp516Ala
NM_001257406.1:c.1547A>C	NP_001244335.1:p.Asp516Ala
NM_001257407.1:c.1502A>C	NP_001244336.1:p.Asp501Ala
NM_001257997.1:c.1067A>C	NP_001244926.1:p.Asp356Ala
XM_005255308.2:c.656A>C	XP_005255365.1:p.Asp219Ala
XM_006721043.1:c.596A>C	XP_006721106.1:p.Asp199Ala
XM_011545825.1:c.1547A>C	XP_011544127.1:p.Asp516Ala
XM_011545826.1:c.1547A>C	XP_011544128.1:p.Asp516Ala
XM_011545827.1:c.1547A>C	XP_011544129.1:p.Asp516Ala
XM_011545828.1:c.1280A>C	XP_011544130.1:p.Asp427Ala
XM_011545829.1:c.1250A>C	XP_011544131.1:p.Asp417Ala
XM_011545830.1:c.1250A>C	XP_011544132.1:p.Asp417Ala
XM_011545831.1:c.1250A>C	XP_011544133.1:p.Asp417Ala
XM_011545832.1:c.1250A>C	XP_011544134.1:p.Asp417Ala
XM_011545833.1:c.1250A>C	XP_011544135.1:p.Asp417Ala
XM_011545834.1:c.1124A>C	XP_011544136.1:p.Asp375Ala
XM_011545826.2:c.1547A>C	XP_011544128.1:p.Asp516Ala
XM_011545827.2:c.1547A>C	XP_011544129.1:p.Asp516Ala
XM_011545828.2:c.1280A>C	XP_011544130.1:p.Asp427Ala
XM_011545830.2:c.1250A>C	XP_011544132.1:p.Asp417Ala
XM_011545833.2:c.1250A>C	XP_011544135.1:p.Asp417Ala
XM_011545834.2:c.1124A>C	XP_011544136.1:p.Asp375Ala
NM_000418.4:c.1547A>C MANE Select	NP_000409.1:p.Asp516Ala
NM_001257406.2:c.1547A>C	NP_001244335.1:p.Asp516Ala
NM_001257407.2:c.1502A>C	NP_001244336.1:p.Asp501Ala
NM_001257997.2:c.1067A>C	NP_001244926.1:p.Asp356Ala