Canonical Allele Identifier: CA44753601
Gene: NLRC4 HGNC NCBI

Linked Data

dbSNP Id: rs925653020
gnomAD v3: 2-32251161-T-C
gnomAD v4: 2-32251161-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32251161T>C , CM000664.2:g.32251161T>C GRCh38
NC_000002.11:g.32476230T>C , CM000664.1:g.32476230T>C GRCh37
NC_000002.10:g.32329734T>C NCBI36
NG_041780.1:g.19583A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000652197.2:c.-76+5614A>G ENSP00000498301.2:n.-76+5614A>G
ENST00000402280.6:c.703A>G MANE Select ENSP00000385428.1:p.Met235Val
ENST00000404025.3:c.703A>G ENSP00000385090.3:p.Met235Val
ENST00000652197.1:c.703A>G ENSP00000498301.1:p.Met235Val
ENST00000342905.10:c.262+1258A>G ENSP00000339666.6:n.262+1258A>G
ENST00000360906.9:c.703A>G ENSP00000354159.5:p.Met235Val
ENST00000402280.5:c.703A>G ENSP00000385428.1:p.Met235Val
ENST00000404025.2:c.703A>G ENSP00000385090.2:p.Met235Val
NM_001199138.1:c.703A>G NP_001186067.1:p.Met235Val
NM_001199139.1:c.703A>G NP_001186068.1:p.Met235Val
NM_001302504.1:c.262+1258A>G NP_001289433.1:n.262+1258A>G
NM_021209.4:c.703A>G NP_067032.3:p.Met235Val
XM_011533008.1:c.703A>G XP_011531310.1:p.Met235Val
XM_017004619.1:c.703A>G XP_016860108.1:p.Met235Val
XR_001738872.1:n.964A>G
NM_001199138.2:c.703A>G MANE Select NP_001186067.1:p.Met235Val