Canonical Allele Identifier: CA1601645
Gene: NLRC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 656380
dbSNP Id: rs373084451
gnomAD v2: 2-32449692-T-G
gnomAD v3: 2-32224623-T-G
gnomAD v4: 2-32224623-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32224623T>G , CM000664.2:g.32224623T>G GRCh38
NC_000002.11:g.32449692T>G , CM000664.1:g.32449692T>G GRCh37
NC_000002.10:g.32303196T>G NCBI36
NG_041780.1:g.46121A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000652197.2:c.618A>C ENSP00000498301.2:p.Lys206Asn
ENST00000402280.6:c.2925A>C MANE Select ENSP00000385428.1:p.Lys975Asn
ENST00000404025.3:c.*631A>C ENSP00000385090.3:n.*631A>C
ENST00000652197.1:c.*655A>C ENSP00000498301.1:n.*655A>C
ENST00000342905.10:c.930A>C ENSP00000339666.6:p.Lys310Asn
ENST00000360906.9:c.2925A>C ENSP00000354159.5:p.Lys975Asn
ENST00000402280.5:c.2925A>C ENSP00000385428.1:p.Lys975Asn
ENST00000404025.2:c.2925A>C ENSP00000385090.2:p.Lys975Asn
NM_001199138.1:c.2925A>C NP_001186067.1:p.Lys975Asn
NM_001199139.1:c.2925A>C NP_001186068.1:p.Lys975Asn
NM_001302504.1:c.930A>C NP_001289433.1:p.Lys310Asn
NM_021209.4:c.2925A>C NP_067032.3:p.Lys975Asn
NM_001199138.2:c.2925A>C MANE Select NP_001186067.1:p.Lys975Asn