Canonical Allele Identifier: CA279686881

Gene: IL4R

Linked Data

• ClinVar Variation Id: 2317709
• ClinVar RCV Id: RCV004161678
• dbSNP Id: rs1048483997
• gnomAD v3: 16-27362791-A-G
• gnomAD v4: 16-27362791-A-G
• MyVariant Identifiers: chr16:g.27374112A>G (hg19) ; chr16:g.27362791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362791A>G , CM000678.2:g.27362791A>G	GRCh38
NC_000016.9:g.27374112A>G , CM000678.1:g.27374112A>G	GRCh37
NC_000016.8:g.27281613A>G	NCBI36
NG_012086.1:g.53862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1439A>G MANE Select	ENSP00000379111.2:p.Asp480Gly
ENST00000170630.6:c.1394A>G	ENSP00000170630.3:p.Asp465Gly
ENST00000395762.6:c.1439A>G	ENSP00000379111.2:p.Asp480Gly
ENST00000543915.6:c.1439A>G	ENSP00000441667.2:p.Asp480Gly
ENST00000565352.1:c.230-1312A>G	ENSP00000461268.1:n.230-1312A>G
ENST00000568746.5:c.*1482A>G	ENSP00000455714.1:n.*1482A>G
NM_000418.3:c.1439A>G	NP_000409.1:p.Asp480Gly
NM_001257406.1:c.1439A>G	NP_001244335.1:p.Asp480Gly
NM_001257407.1:c.1394A>G	NP_001244336.1:p.Asp465Gly
NM_001257997.1:c.959A>G	NP_001244926.1:p.Asp320Gly
XM_005255308.2:c.548A>G	XP_005255365.1:p.Asp183Gly
XM_006721043.1:c.488A>G	XP_006721106.1:p.Asp163Gly
XM_011545825.1:c.1439A>G	XP_011544127.1:p.Asp480Gly
XM_011545826.1:c.1439A>G	XP_011544128.1:p.Asp480Gly
XM_011545827.1:c.1439A>G	XP_011544129.1:p.Asp480Gly
XM_011545828.1:c.1172A>G	XP_011544130.1:p.Asp391Gly
XM_011545829.1:c.1142A>G	XP_011544131.1:p.Asp381Gly
XM_011545830.1:c.1142A>G	XP_011544132.1:p.Asp381Gly
XM_011545831.1:c.1142A>G	XP_011544133.1:p.Asp381Gly
XM_011545832.1:c.1142A>G	XP_011544134.1:p.Asp381Gly
XM_011545833.1:c.1142A>G	XP_011544135.1:p.Asp381Gly
XM_011545834.1:c.1016A>G	XP_011544136.1:p.Asp339Gly
XM_011545826.2:c.1439A>G	XP_011544128.1:p.Asp480Gly
XM_011545827.2:c.1439A>G	XP_011544129.1:p.Asp480Gly
XM_011545828.2:c.1172A>G	XP_011544130.1:p.Asp391Gly
XM_011545830.2:c.1142A>G	XP_011544132.1:p.Asp381Gly
XM_011545833.2:c.1142A>G	XP_011544135.1:p.Asp381Gly
XM_011545834.2:c.1016A>G	XP_011544136.1:p.Asp339Gly
XM_017023211.1:c.*474A>G	XP_016878700.1:n.*474A>G
NM_000418.4:c.1439A>G MANE Select	NP_000409.1:p.Asp480Gly
NM_001257406.2:c.1439A>G	NP_001244335.1:p.Asp480Gly
NM_001257407.2:c.1394A>G	NP_001244336.1:p.Asp465Gly
NM_001257997.2:c.959A>G	NP_001244926.1:p.Asp320Gly