Canonical Allele Identifier: CA1602125

Gene: NLRC4

Linked Data

• dbSNP Id: rs774856648
• ExAC: 2:32476391 C / G
• gnomAD v2: 2-32476391-C-G
• gnomAD v4: 2-32251322-C-G
• MyVariant Identifiers: chr2:g.32476391C>G (hg19) ; chr2:g.32251322C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251322C>G , CM000664.2:g.32251322C>G	GRCh38
NC_000002.11:g.32476391C>G , CM000664.1:g.32476391C>G	GRCh37
NC_000002.10:g.32329895C>G	NCBI36
NG_041780.1:g.19422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5453G>C	ENSP00000498301.2:n.-76+5453G>C
ENST00000402280.6:c.542G>C MANE Select	ENSP00000385428.1:p.Arg181Pro
ENST00000404025.3:c.542G>C	ENSP00000385090.3:p.Arg181Pro
ENST00000652197.1:c.542G>C	ENSP00000498301.1:p.Arg181Pro
ENST00000342905.10:c.262+1097G>C	ENSP00000339666.6:n.262+1097G>C
ENST00000360906.9:c.542G>C	ENSP00000354159.5:p.Arg181Pro
ENST00000402280.5:c.542G>C	ENSP00000385428.1:p.Arg181Pro
ENST00000404025.2:c.542G>C	ENSP00000385090.2:p.Arg181Pro
NM_001199138.1:c.542G>C	NP_001186067.1:p.Arg181Pro
NM_001199139.1:c.542G>C	NP_001186068.1:p.Arg181Pro
NM_001302504.1:c.262+1097G>C	NP_001289433.1:n.262+1097G>C
NM_021209.4:c.542G>C	NP_067032.3:p.Arg181Pro
XM_011533008.1:c.542G>C	XP_011531310.1:p.Arg181Pro
XM_017004619.1:c.542G>C	XP_016860108.1:p.Arg181Pro
XR_001738872.1:n.803G>C
NM_001199138.2:c.542G>C MANE Select	NP_001186067.1:p.Arg181Pro