Canonical Allele Identifier: CA1602118

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 1694382
• ClinVar RCV Id: RCV002262104
• dbSNP Id: rs771648968
• ExAC: 2:32476368 C / T
• gnomAD v2: 2-32476368-C-T
• gnomAD v3: 2-32251299-C-T
• gnomAD v4: 2-32251299-C-T
• COSMIC: COSM1020183
• MyVariant Identifiers: chr2:g.32476368C>T (hg19) ; chr2:g.32251299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251299C>T , CM000664.2:g.32251299C>T	GRCh38
NC_000002.11:g.32476368C>T , CM000664.1:g.32476368C>T	GRCh37
NC_000002.10:g.32329872C>T	NCBI36
NG_041780.1:g.19445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5476G>A	ENSP00000498301.2:n.-76+5476G>A
ENST00000402280.6:c.565G>A MANE Select	ENSP00000385428.1:p.Gly189Arg
ENST00000404025.3:c.565G>A	ENSP00000385090.3:p.Gly189Arg
ENST00000652197.1:c.565G>A	ENSP00000498301.1:p.Gly189Arg
ENST00000342905.10:c.262+1120G>A	ENSP00000339666.6:n.262+1120G>A
ENST00000360906.9:c.565G>A	ENSP00000354159.5:p.Gly189Arg
ENST00000402280.5:c.565G>A	ENSP00000385428.1:p.Gly189Arg
ENST00000404025.2:c.565G>A	ENSP00000385090.2:p.Gly189Arg
NM_001199138.1:c.565G>A	NP_001186067.1:p.Gly189Arg
NM_001199139.1:c.565G>A	NP_001186068.1:p.Gly189Arg
NM_001302504.1:c.262+1120G>A	NP_001289433.1:n.262+1120G>A
NM_021209.4:c.565G>A	NP_067032.3:p.Gly189Arg
XM_011533008.1:c.565G>A	XP_011531310.1:p.Gly189Arg
XM_017004619.1:c.565G>A	XP_016860108.1:p.Gly189Arg
XR_001738872.1:n.826G>A
NM_001199138.2:c.565G>A MANE Select	NP_001186067.1:p.Gly189Arg