Canonical Allele Identifier: CA7974586

Gene: IL4R

Linked Data

• dbSNP Id: rs764703501
• ExAC: 16:27374212 G / C
• gnomAD v2: 16-27374212-G-C
• gnomAD v3: 16-27362891-G-C
• gnomAD v4: 16-27362891-G-C
• MyVariant Identifiers: chr16:g.27374212G>C (hg19) ; chr16:g.27362891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362891G>C , CM000678.2:g.27362891G>C	GRCh38
NC_000016.9:g.27374212G>C , CM000678.1:g.27374212G>C	GRCh37
NC_000016.8:g.27281713G>C	NCBI36
NG_012086.1:g.53962G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1539G>C MANE Select	ENSP00000379111.2:p.Leu513=
ENST00000170630.6:c.1494G>C	ENSP00000170630.3:p.Leu498=
ENST00000395762.6:c.1539G>C	ENSP00000379111.2:p.Leu513=
ENST00000543915.6:c.1539G>C	ENSP00000441667.2:p.Leu513=
ENST00000565352.1:c.230-1212G>C	ENSP00000461268.1:n.230-1212G>C
ENST00000568746.5:c.*1582G>C	ENSP00000455714.1:n.*1582G>C
NM_000418.3:c.1539G>C	NP_000409.1:p.Leu513=
NM_001257406.1:c.1539G>C	NP_001244335.1:p.Leu513=
NM_001257407.1:c.1494G>C	NP_001244336.1:p.Leu498=
NM_001257997.1:c.1059G>C	NP_001244926.1:p.Leu353=
XM_005255308.2:c.648G>C	XP_005255365.1:p.Leu216=
XM_006721043.1:c.588G>C	XP_006721106.1:p.Leu196=
XM_011545825.1:c.1539G>C	XP_011544127.1:p.Leu513=
XM_011545826.1:c.1539G>C	XP_011544128.1:p.Leu513=
XM_011545827.1:c.1539G>C	XP_011544129.1:p.Leu513=
XM_011545828.1:c.1272G>C	XP_011544130.1:p.Leu424=
XM_011545829.1:c.1242G>C	XP_011544131.1:p.Leu414=
XM_011545830.1:c.1242G>C	XP_011544132.1:p.Leu414=
XM_011545831.1:c.1242G>C	XP_011544133.1:p.Leu414=
XM_011545832.1:c.1242G>C	XP_011544134.1:p.Leu414=
XM_011545833.1:c.1242G>C	XP_011544135.1:p.Leu414=
XM_011545834.1:c.1116G>C	XP_011544136.1:p.Leu372=
XM_011545826.2:c.1539G>C	XP_011544128.1:p.Leu513=
XM_011545827.2:c.1539G>C	XP_011544129.1:p.Leu513=
XM_011545828.2:c.1272G>C	XP_011544130.1:p.Leu424=
XM_011545830.2:c.1242G>C	XP_011544132.1:p.Leu414=
XM_011545833.2:c.1242G>C	XP_011544135.1:p.Leu414=
XM_011545834.2:c.1116G>C	XP_011544136.1:p.Leu372=
NM_000418.4:c.1539G>C MANE Select	NP_000409.1:p.Leu513=
NM_001257406.2:c.1539G>C	NP_001244335.1:p.Leu513=
NM_001257407.2:c.1494G>C	NP_001244336.1:p.Leu498=
NM_001257997.2:c.1059G>C	NP_001244926.1:p.Leu353=