Canonical Allele Identifier: CA346519542

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 1470505
• ClinVar RCV Id: RCV001995238
• dbSNP Id: rs2148927586
• MyVariant Identifiers: chr2:g.32449795T>C (hg19) ; chr2:g.32224726T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32224726T>C , CM000664.2:g.32224726T>C	GRCh38
NC_000002.11:g.32449795T>C , CM000664.1:g.32449795T>C	GRCh37
NC_000002.10:g.32303299T>C	NCBI36
NG_041780.1:g.46018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.515A>G	ENSP00000498301.2:p.Gln172Arg
ENST00000402280.6:c.2822A>G MANE Select	ENSP00000385428.1:p.Gln941Arg
ENST00000404025.3:c.*528A>G	ENSP00000385090.3:n.*528A>G
ENST00000652197.1:c.*552A>G	ENSP00000498301.1:n.*552A>G
ENST00000342905.10:c.827A>G	ENSP00000339666.6:p.Gln276Arg
ENST00000360906.9:c.2822A>G	ENSP00000354159.5:p.Gln941Arg
ENST00000402280.5:c.2822A>G	ENSP00000385428.1:p.Gln941Arg
ENST00000404025.2:c.2822A>G	ENSP00000385090.2:p.Gln941Arg
NM_001199138.1:c.2822A>G	NP_001186067.1:p.Gln941Arg
NM_001199139.1:c.2822A>G	NP_001186068.1:p.Gln941Arg
NM_001302504.1:c.827A>G	NP_001289433.1:p.Gln276Arg
NM_021209.4:c.2822A>G	NP_067032.3:p.Gln941Arg
NM_001199138.2:c.2822A>G MANE Select	NP_001186067.1:p.Gln941Arg