Canonical Allele Identifier: CA1601637
Community Standard Title: NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)
Gene: NLRC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32224591T>C , CM000664.2:g.32224591T>C GRCh38
NC_000002.11:g.32449660T>C , CM000664.1:g.32449660T>C GRCh37
NC_000002.10:g.32303164T>C NCBI36
NG_041780.1:g.46153A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001199138.2:c.2957A>G MANE Select NP_001186067.1:p.Lys986Arg
ENST00000402280.6:c.2957A>G MANE Select ENSP00000385428.1:p.Lys986Arg
NM_001199138.1:c.2957A>G NP_001186067.1:p.Lys986Arg
NM_001199139.1:c.2957A>G NP_001186068.1:p.Lys986Arg
NM_001302504.1:c.962A>G NP_001289433.1:p.Lys321Arg
NM_021209.4:c.2957A>G NP_067032.3:p.Lys986Arg
ENST00000342905.10:c.962A>G ENSP00000339666.6:p.Lys321Arg
ENST00000360906.9:c.2957A>G ENSP00000354159.5:p.Lys986Arg
ENST00000402280.5:c.2957A>G ENSP00000385428.1:p.Lys986Arg
ENST00000404025.2:c.2957A>G ENSP00000385090.2:p.Lys986Arg
ENST00000404025.3:c.*663A>G ENSP00000385090.3:n.*663A>G
ENST00000652197.1:c.*687A>G ENSP00000498301.1:n.*687A>G
ENST00000652197.2:c.650A>G ENSP00000498301.2:p.Lys217Arg