Canonical Allele Identifier: CA346520780

Gene: NLRC4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32235505T>C , CM000664.2:g.32235505T>C	GRCh38
NC_000002.11:g.32460574T>C , CM000664.1:g.32460574T>C	GRCh37
NC_000002.10:g.32314078T>C	NCBI36
NG_041780.1:g.35239A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001199138.2:c.2678A>G MANE Select	NP_001186067.1:p.Gln893Arg
ENST00000402280.6:c.2678A>G MANE Select	ENSP00000385428.1:p.Gln893Arg
NM_001199138.1:c.2678A>G	NP_001186067.1:p.Gln893Arg
NM_001199139.1:c.2678A>G	NP_001186068.1:p.Gln893Arg
NM_001302504.1:c.683A>G	NP_001289433.1:p.Gln228Arg
NM_021209.4:c.2678A>G	NP_067032.3:p.Gln893Arg
ENST00000342905.10:c.683A>G	ENSP00000339666.6:p.Gln228Arg
ENST00000360906.9:c.2678A>G	ENSP00000354159.5:p.Gln893Arg
ENST00000402280.5:c.2678A>G	ENSP00000385428.1:p.Gln893Arg
ENST00000404025.2:c.2678A>G	ENSP00000385090.2:p.Gln893Arg
ENST00000404025.3:c.*384A>G	ENSP00000385090.3:n.*384A>G
ENST00000652197.1:c.*408A>G	ENSP00000498301.1:n.*408A>G
ENST00000652197.2:c.371A>G	ENSP00000498301.2:p.Gln124Arg
XR_001738872.1:n.2944A>G