Canonical Allele Identifier: CA1602123

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 403237
• ClinVar RCV Id: RCV000455841 ; RCV001511111 ; RCV001782916 ; RCV001782915 ; RCV001824777
• dbSNP Id: rs408813
• ExAC: 2:32476390 T / G
• gnomAD v2: 2-32476390-T-G
• gnomAD v3: 2-32251321-T-G
• gnomAD v4: 2-32251321-T-G
• MyVariant Identifiers: chr2:g.32476390T>G (hg19) ; chr2:g.32251321T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251321T>G , CM000664.2:g.32251321T>G	GRCh38
NC_000002.11:g.32476390T>G , CM000664.1:g.32476390T>G	GRCh37
NC_000002.10:g.32329894T>G	NCBI36
NG_041780.1:g.19423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5454A>C	ENSP00000498301.2:n.-76+5454A>C
ENST00000402280.6:c.543A>C MANE Select	ENSP00000385428.1:p.Arg181=
ENST00000404025.3:c.543A>C	ENSP00000385090.3:p.Arg181=
ENST00000652197.1:c.543A>C	ENSP00000498301.1:p.Arg181=
ENST00000342905.10:c.262+1098A>C	ENSP00000339666.6:n.262+1098A>C
ENST00000360906.9:c.543A>C	ENSP00000354159.5:p.Arg181=
ENST00000402280.5:c.543A>C	ENSP00000385428.1:p.Arg181=
ENST00000404025.2:c.543A>C	ENSP00000385090.2:p.Arg181=
NM_001199138.1:c.543A>C	NP_001186067.1:p.Arg181=
NM_001199139.1:c.543A>C	NP_001186068.1:p.Arg181=
NM_001302504.1:c.262+1098A>C	NP_001289433.1:n.262+1098A>C
NM_021209.4:c.543A>C	NP_067032.3:p.Arg181=
XM_011533008.1:c.543A>C	XP_011531310.1:p.Arg181=
XM_017004619.1:c.543A>C	XP_016860108.1:p.Arg181=
XR_001738872.1:n.804A>C
NM_001199138.2:c.543A>C MANE Select	NP_001186067.1:p.Arg181=