Canonical Allele Identifier: CA395299151
Gene: IL4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362911C>T , CM000678.2:g.27362911C>T GRCh38
NC_000016.9:g.27374232C>T , CM000678.1:g.27374232C>T GRCh37
NC_000016.8:g.27281733C>T NCBI36
NG_012086.1:g.53982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1559C>T MANE Select ENSP00000379111.2:p.Ala520Val
ENST00000170630.6:c.1514C>T ENSP00000170630.3:p.Ala505Val
ENST00000395762.6:c.1559C>T ENSP00000379111.2:p.Ala520Val
ENST00000543915.6:c.1559C>T ENSP00000441667.2:p.Ala520Val
ENST00000565352.1:c.230-1192C>T ENSP00000461268.1:n.230-1192C>T
ENST00000568746.5:c.*1602C>T ENSP00000455714.1:n.*1602C>T
NM_000418.3:c.1559C>T NP_000409.1:p.Ala520Val
NM_001257406.1:c.1559C>T NP_001244335.1:p.Ala520Val
NM_001257407.1:c.1514C>T NP_001244336.1:p.Ala505Val
NM_001257997.1:c.1079C>T NP_001244926.1:p.Ala360Val
XM_005255308.2:c.668C>T XP_005255365.1:p.Ala223Val
XM_006721043.1:c.608C>T XP_006721106.1:p.Ala203Val
XM_011545825.1:c.1559C>T XP_011544127.1:p.Ala520Val
XM_011545826.1:c.1559C>T XP_011544128.1:p.Ala520Val
XM_011545827.1:c.1559C>T XP_011544129.1:p.Ala520Val
XM_011545828.1:c.1292C>T XP_011544130.1:p.Ala431Val
XM_011545829.1:c.1262C>T XP_011544131.1:p.Ala421Val
XM_011545830.1:c.1262C>T XP_011544132.1:p.Ala421Val
XM_011545831.1:c.1262C>T XP_011544133.1:p.Ala421Val
XM_011545832.1:c.1262C>T XP_011544134.1:p.Ala421Val
XM_011545833.1:c.1262C>T XP_011544135.1:p.Ala421Val
XM_011545834.1:c.1136C>T XP_011544136.1:p.Ala379Val
XM_011545826.2:c.1559C>T XP_011544128.1:p.Ala520Val
XM_011545827.2:c.1559C>T XP_011544129.1:p.Ala520Val
XM_011545828.2:c.1292C>T XP_011544130.1:p.Ala431Val
XM_011545830.2:c.1262C>T XP_011544132.1:p.Ala421Val
XM_011545833.2:c.1262C>T XP_011544135.1:p.Ala421Val
XM_011545834.2:c.1136C>T XP_011544136.1:p.Ala379Val
NM_000418.4:c.1559C>T MANE Select NP_000409.1:p.Ala520Val
NM_001257406.2:c.1559C>T NP_001244335.1:p.Ala520Val
NM_001257407.2:c.1514C>T NP_001244336.1:p.Ala505Val
NM_001257997.2:c.1079C>T NP_001244926.1:p.Ala360Val