Canonical Allele Identifier: CA395299102

Gene: IL4R

Linked Data

• dbSNP Id: rs2086352208
• gnomAD v4: 16-27362889-C-A
• MyVariant Identifiers: chr16:g.27374210C>A (hg19) ; chr16:g.27362889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362889C>A , CM000678.2:g.27362889C>A	GRCh38
NC_000016.9:g.27374210C>A , CM000678.1:g.27374210C>A	GRCh37
NC_000016.8:g.27281711C>A	NCBI36
NG_012086.1:g.53960C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1537C>A MANE Select	ENSP00000379111.2:p.Leu513Met
ENST00000170630.6:c.1492C>A	ENSP00000170630.3:p.Leu498Met
ENST00000395762.6:c.1537C>A	ENSP00000379111.2:p.Leu513Met
ENST00000543915.6:c.1537C>A	ENSP00000441667.2:p.Leu513Met
ENST00000565352.1:c.230-1214C>A	ENSP00000461268.1:n.230-1214C>A
ENST00000568746.5:c.*1580C>A	ENSP00000455714.1:n.*1580C>A
NM_000418.3:c.1537C>A	NP_000409.1:p.Leu513Met
NM_001257406.1:c.1537C>A	NP_001244335.1:p.Leu513Met
NM_001257407.1:c.1492C>A	NP_001244336.1:p.Leu498Met
NM_001257997.1:c.1057C>A	NP_001244926.1:p.Leu353Met
XM_005255308.2:c.646C>A	XP_005255365.1:p.Leu216Met
XM_006721043.1:c.586C>A	XP_006721106.1:p.Leu196Met
XM_011545825.1:c.1537C>A	XP_011544127.1:p.Leu513Met
XM_011545826.1:c.1537C>A	XP_011544128.1:p.Leu513Met
XM_011545827.1:c.1537C>A	XP_011544129.1:p.Leu513Met
XM_011545828.1:c.1270C>A	XP_011544130.1:p.Leu424Met
XM_011545829.1:c.1240C>A	XP_011544131.1:p.Leu414Met
XM_011545830.1:c.1240C>A	XP_011544132.1:p.Leu414Met
XM_011545831.1:c.1240C>A	XP_011544133.1:p.Leu414Met
XM_011545832.1:c.1240C>A	XP_011544134.1:p.Leu414Met
XM_011545833.1:c.1240C>A	XP_011544135.1:p.Leu414Met
XM_011545834.1:c.1114C>A	XP_011544136.1:p.Leu372Met
XM_011545826.2:c.1537C>A	XP_011544128.1:p.Leu513Met
XM_011545827.2:c.1537C>A	XP_011544129.1:p.Leu513Met
XM_011545828.2:c.1270C>A	XP_011544130.1:p.Leu424Met
XM_011545830.2:c.1240C>A	XP_011544132.1:p.Leu414Met
XM_011545833.2:c.1240C>A	XP_011544135.1:p.Leu414Met
XM_011545834.2:c.1114C>A	XP_011544136.1:p.Leu372Met
NM_000418.4:c.1537C>A MANE Select	NP_000409.1:p.Leu513Met
NM_001257406.2:c.1537C>A	NP_001244335.1:p.Leu513Met
NM_001257407.2:c.1492C>A	NP_001244336.1:p.Leu498Met
NM_001257997.2:c.1057C>A	NP_001244926.1:p.Leu353Met