Canonical Allele Identifier: CA346058

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 161413
• ClinVar RCV Id: RCV000148929 ; RCV001227277
• dbSNP Id: rs606231460
• MyVariant Identifiers: chr2:g.32475605T>G (hg19) ; chr2:g.32250536T>G (hg38)
• PubMed: PMID:25385754

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32250536T>G , CM000664.2:g.32250536T>G	GRCh38
NC_000002.11:g.32475605T>G , CM000664.1:g.32475605T>G	GRCh37
NC_000002.10:g.32329109T>G	NCBI36
NG_041780.1:g.20208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+6239A>C	ENSP00000498301.2:n.-76+6239A>C
ENST00000402280.6:c.1328A>C MANE Select	ENSP00000385428.1:p.His443Pro
ENST00000404025.3:c.1328A>C	ENSP00000385090.3:p.His443Pro
ENST00000652197.1:c.1328A>C	ENSP00000498301.1:p.His443Pro
ENST00000342905.10:c.262+1883A>C	ENSP00000339666.6:n.262+1883A>C
ENST00000360906.9:c.1328A>C	ENSP00000354159.5:p.His443Pro
ENST00000402280.5:c.1328A>C	ENSP00000385428.1:p.His443Pro
ENST00000404025.2:c.1328A>C	ENSP00000385090.2:p.His443Pro
NM_001199138.1:c.1328A>C	NP_001186067.1:p.His443Pro
NM_001199139.1:c.1328A>C	NP_001186068.1:p.His443Pro
NM_001302504.1:c.262+1883A>C	NP_001289433.1:n.262+1883A>C
NM_021209.4:c.1328A>C	NP_067032.3:p.His443Pro
XM_011533008.1:c.1328A>C	XP_011531310.1:p.His443Pro
XM_017004619.1:c.1328A>C	XP_016860108.1:p.His443Pro
XR_001738872.1:n.1589A>C
NM_001199138.2:c.1328A>C MANE Select	NP_001186067.1:p.His443Pro