Canonical Allele Identifier: CA170101

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 143224
• ClinVar RCV Id: RCV000132764 ; RCV000144517 ; RCV000434682 ; RCV001857479
• dbSNP Id: rs587781260
• MyVariant Identifiers: chr2:g.32475911A>G (hg19) ; chr2:g.32250842A>G (hg38)
• PubMed: PMID:25217960

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32250842A>G , CM000664.2:g.32250842A>G	GRCh38
NC_000002.11:g.32475911A>G , CM000664.1:g.32475911A>G	GRCh37
NC_000002.10:g.32329415A>G	NCBI36
NG_041780.1:g.19902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5933T>C	ENSP00000498301.2:n.-76+5933T>C
ENST00000402280.6:c.1022T>C MANE Select	ENSP00000385428.1:p.Val341Ala
ENST00000404025.3:c.1022T>C	ENSP00000385090.3:p.Val341Ala
ENST00000652197.1:c.1022T>C	ENSP00000498301.1:p.Val341Ala
ENST00000342905.10:c.262+1577T>C	ENSP00000339666.6:n.262+1577T>C
ENST00000360906.9:c.1022T>C	ENSP00000354159.5:p.Val341Ala
ENST00000402280.5:c.1022T>C	ENSP00000385428.1:p.Val341Ala
ENST00000404025.2:c.1022T>C	ENSP00000385090.2:p.Val341Ala
NM_001199138.1:c.1022T>C	NP_001186067.1:p.Val341Ala
NM_001199139.1:c.1022T>C	NP_001186068.1:p.Val341Ala
NM_001302504.1:c.262+1577T>C	NP_001289433.1:n.262+1577T>C
NM_021209.4:c.1022T>C	NP_067032.3:p.Val341Ala
XM_011533008.1:c.1022T>C	XP_011531310.1:p.Val341Ala
XM_017004619.1:c.1022T>C	XP_016860108.1:p.Val341Ala
XR_001738872.1:n.1283T>C
NM_001199138.2:c.1022T>C MANE Select	NP_001186067.1:p.Val341Ala