Canonical Allele Identifier: CA384474851

Gene: IRAK4

Linked Data

• gnomAD v4: 12-43778208-C-A
• MyVariant Identifiers: chr12:g.44172011C>A (hg19) ; chr12:g.43778208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.43778208C>A , CM000674.2:g.43778208C>A	GRCh38
NC_000012.11:g.44172011C>A , CM000674.1:g.44172011C>A	GRCh37
NC_000012.10:g.42458278C>A	NCBI36
NG_009892.1:g.24265C>A , LRG_75:g.24265C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696790.1:c.*518C>A	ENSP00000512872.1:n.*518C>A
ENST00000696791.1:c.*749C>A	ENSP00000512873.1:n.*749C>A
ENST00000696792.1:c.16C>A	ENSP00000512874.1:p.Leu6Ile
ENST00000696795.1:c.*518C>A	ENSP00000512876.1:n.*518C>A
ENST00000696796.1:c.*492C>A	ENSP00000512877.1:n.*492C>A
ENST00000613694.5:c.847C>A MANE Select	ENSP00000479889.3:p.Leu283Ile
ENST00000431837.5:c.475C>A	ENSP00000390327.1:p.Leu159Ile
ENST00000440781.6:c.475C>A	ENSP00000408734.2:p.Leu159Ile
ENST00000448290.6:c.845C>A	ENSP00000390651.3:n.845C>A
ENST00000547101.5:c.*749C>A	ENSP00000449317.1:n.*749C>A
ENST00000547521.5:c.*518C>A	ENSP00000449693.1:n.*518C>A
ENST00000547928.1:n.366C>A
ENST00000550386.5:c.*749C>A	ENSP00000449848.1:n.*749C>A
ENST00000550615.5:c.*518C>A	ENSP00000449553.1:n.*518C>A
ENST00000551736.5:c.847C>A	ENSP00000446490.1:p.Leu283Ile
ENST00000552309.5:c.*432C>A	ENSP00000448197.1:n.*432C>A
ENST00000613694.4:c.847C>A	ENSP00000479889.2:p.Leu283Ile
NM_001114182.2:c.847C>A	NP_001107654.1:p.Leu283Ile
NM_001145256.1:c.475C>A	NP_001138728.1:p.Leu159Ile
NM_001145257.1:c.475C>A	NP_001138729.1:p.Leu159Ile
NM_001145258.1:c.475C>A	NP_001138730.1:p.Leu159Ile
NM_016123.3:c.847C>A , LRG_75t1:c.847C>A	NP_057207.2:p.Leu283Ile
XM_005268943.3:c.847C>A	XP_005269000.1:p.Leu283Ile
XM_005268944.3:c.847C>A	XP_005269001.1:p.Leu283Ile
XM_005268945.3:c.847C>A	XP_005269002.1:p.Leu283Ile
XM_005268946.3:c.847C>A	XP_005269003.1:p.Leu283Ile
XM_005268947.3:c.475C>A	XP_005269004.1:p.Leu159Ile
XM_005268948.2:c.475C>A	XP_005269005.1:p.Leu159Ile
XM_005268949.2:c.475C>A	XP_005269006.1:p.Leu159Ile
XM_006719438.2:c.847C>A	XP_006719501.1:p.Leu283Ile
XM_006719439.2:c.475C>A	XP_006719502.1:p.Leu159Ile
XM_006719440.1:c.238C>A	XP_006719503.1:p.Leu80Ile
XM_006719441.1:c.238C>A	XP_006719504.1:p.Leu80Ile
XM_006719442.1:c.238C>A	XP_006719505.1:p.Leu80Ile
XM_006719443.2:c.238C>A	XP_006719506.1:p.Leu80Ile
XM_011538431.1:c.847C>A	XP_011536733.1:p.Leu283Ile
XM_011538432.1:c.847C>A	XP_011536734.1:p.Leu283Ile
XM_011538433.1:c.847C>A	XP_011536735.1:p.Leu283Ile
NM_001351338.1:c.475C>A	NP_001338267.1:p.Leu159Ile
NM_001351339.1:c.475C>A	NP_001338268.1:p.Leu159Ile
NM_001351340.1:c.475C>A	NP_001338269.1:p.Leu159Ile
NM_001351341.1:c.475C>A	NP_001338270.1:p.Leu159Ile
NM_001351342.1:c.475C>A	NP_001338271.1:p.Leu159Ile
NM_001351343.1:c.238C>A	NP_001338272.1:p.Leu80Ile
NM_001351344.1:c.238C>A	NP_001338273.1:p.Leu80Ile
NM_001351345.1:c.847C>A	NP_001338274.1:p.Leu283Ile
XM_005268944.4:c.847C>A	XP_005269001.1:p.Leu283Ile
XM_005268945.4:c.847C>A	XP_005269002.1:p.Leu283Ile
XM_006719438.3:c.847C>A	XP_006719501.1:p.Leu283Ile
XM_006719440.2:c.238C>A	XP_006719503.1:p.Leu80Ile
XM_006719442.2:c.238C>A	XP_006719505.1:p.Leu80Ile
XM_011538431.2:c.847C>A	XP_011536733.1:p.Leu283Ile
XM_011538433.2:c.847C>A	XP_011536735.1:p.Leu283Ile
XM_017019390.2:c.847C>A	XP_016874879.1:p.Leu283Ile
NM_016123.4:c.847C>A MANE Select	NP_057207.2:p.Leu283Ile
NM_001114182.3:c.847C>A	NP_001107654.1:p.Leu283Ile
NM_001145256.2:c.475C>A	NP_001138728.1:p.Leu159Ile
NM_001145257.2:c.475C>A	NP_001138729.1:p.Leu159Ile
NM_001145258.2:c.475C>A	NP_001138730.1:p.Leu159Ile
NM_001351338.2:c.475C>A	NP_001338267.1:p.Leu159Ile
NM_001351339.2:c.475C>A	NP_001338268.1:p.Leu159Ile
NM_001351340.2:c.475C>A	NP_001338269.1:p.Leu159Ile
NM_001351341.2:c.475C>A	NP_001338270.1:p.Leu159Ile
NM_001351342.2:c.475C>A	NP_001338271.1:p.Leu159Ile
NM_001351343.2:c.238C>A	NP_001338272.1:p.Leu80Ile
NM_001351344.2:c.238C>A	NP_001338273.1:p.Leu80Ile
NM_001351345.2:c.847C>A	NP_001338274.1:p.Leu283Ile