Canonical Allele Identifier: CA1601640

Gene: NLRC4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32224603G>A , CM000664.2:g.32224603G>A	GRCh38
NC_000002.11:g.32449672G>A , CM000664.1:g.32449672G>A	GRCh37
NC_000002.10:g.32303176G>A	NCBI36
NG_041780.1:g.46141C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001199138.2:c.2945C>T MANE Select	NP_001186067.1:p.Ala982Val
ENST00000402280.6:c.2945C>T MANE Select	ENSP00000385428.1:p.Ala982Val
NM_001199138.1:c.2945C>T	NP_001186067.1:p.Ala982Val
NM_001199139.1:c.2945C>T	NP_001186068.1:p.Ala982Val
NM_001302504.1:c.950C>T	NP_001289433.1:p.Ala317Val
NM_021209.4:c.2945C>T	NP_067032.3:p.Ala982Val
ENST00000342905.10:c.950C>T	ENSP00000339666.6:p.Ala317Val
ENST00000360906.9:c.2945C>T	ENSP00000354159.5:p.Ala982Val
ENST00000402280.5:c.2945C>T	ENSP00000385428.1:p.Ala982Val
ENST00000404025.2:c.2945C>T	ENSP00000385090.2:p.Ala982Val
ENST00000404025.3:c.*651C>T	ENSP00000385090.3:n.*651C>T
ENST00000652197.1:c.*675C>T	ENSP00000498301.1:n.*675C>T
ENST00000652197.2:c.638C>T	ENSP00000498301.2:p.Ala213Val