Canonical Allele Identifier: CA346519073

Gene: NLRC4

Linked Data

• MyVariant Identifiers: chr2:g.32449584A>T (hg19) ; chr2:g.32224515A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32224515A>T , CM000664.2:g.32224515A>T	GRCh38
NC_000002.11:g.32449584A>T , CM000664.1:g.32449584A>T	GRCh37
NC_000002.10:g.32303088A>T	NCBI36
NG_041780.1:g.46229T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.726T>A	ENSP00000498301.2:p.Asp242Glu
ENST00000402280.6:c.3033T>A MANE Select	ENSP00000385428.1:p.Asp1011Glu
ENST00000404025.3:c.*739T>A	ENSP00000385090.3:n.*739T>A
ENST00000652197.1:c.*763T>A	ENSP00000498301.1:n.*763T>A
ENST00000342905.10:c.1038T>A	ENSP00000339666.6:p.Asp346Glu
ENST00000360906.9:c.3033T>A	ENSP00000354159.5:p.Asp1011Glu
ENST00000402280.5:c.3033T>A	ENSP00000385428.1:p.Asp1011Glu
ENST00000404025.2:c.3033T>A	ENSP00000385090.2:p.Asp1011Glu
NM_001199138.1:c.3033T>A	NP_001186067.1:p.Asp1011Glu
NM_001199139.1:c.3033T>A	NP_001186068.1:p.Asp1011Glu
NM_001302504.1:c.1038T>A	NP_001289433.1:p.Asp346Glu
NM_021209.4:c.3033T>A	NP_067032.3:p.Asp1011Glu
NM_001199138.2:c.3033T>A MANE Select	NP_001186067.1:p.Asp1011Glu