Canonical Allele Identifier: CA2499215891

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 1061217
• ClinVar RCV Id: RCV001370758
• dbSNP Id: rs2148943042

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251321_32251322delinsGT , CM000664.2:g.32251321_32251322delinsGT	GRCh38
NC_000002.11:g.32476390_32476391delinsGT , CM000664.1:g.32476390_32476391delinsGT	GRCh37
NC_000002.10:g.32329894_32329895delinsGT	NCBI36
NG_041780.1:g.19422_19423delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5453_-76+5454delinsAC	ENSP00000498301.2:n.-76+5453_-76+5454delinsAC
ENST00000402280.6:c.542_543delinsAC MANE Select	ENSP00000385428.1:p.Arg181His
ENST00000404025.3:c.542_543delinsAC	ENSP00000385090.3:p.Arg181His
ENST00000652197.1:c.542_543delinsAC	ENSP00000498301.1:p.Arg181His
ENST00000342905.10:c.262+1097_262+1098delinsAC	ENSP00000339666.6:n.262+1097_262+1098delinsAC
ENST00000360906.9:c.542_543delinsAC	ENSP00000354159.5:p.Arg181His
ENST00000402280.5:c.542_543delinsAC	ENSP00000385428.1:p.Arg181His
ENST00000404025.2:c.542_543delinsAC	ENSP00000385090.2:p.Arg181His
NM_001199138.1:c.542_543delinsAC	NP_001186067.1:p.Arg181His
NM_001199139.1:c.542_543delinsAC	NP_001186068.1:p.Arg181His
NM_001302504.1:c.262+1097_262+1098delinsAC	NP_001289433.1:n.262+1097_262+1098delinsAC
NM_021209.4:c.542_543delinsAC	NP_067032.3:p.Arg181His
XM_011533008.1:c.542_543delinsAC	XP_011531310.1:p.Arg181His
XM_017004619.1:c.542_543delinsAC	XP_016860108.1:p.Arg181His
XR_001738872.1:n.803_804delinsAC
NM_001199138.2:c.542_543delinsAC MANE Select	NP_001186067.1:p.Arg181His