Canonical Allele Identifier: CA1601808
Gene: NLRC4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.32238296C>A
GRCh37 chr2:g.32463365C>A
Revel Score:
ENST00000360906 0.217
ENST00000402280 (MANE Select) 0.217
ENST00000342905 0.217
ENST00000404025 0.217
gnomAD v2:
2:32463365 C / A
gnomAD v3:
2:32238296 C / A
gnomAD v4:
chr2-32238296-C-A
Joint Max Group AF 0.00464735 (NFE)
Genomes Max Group AF 0.00383086 (NFE)
Exomes Max Group AF 0.00467646 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32238296C>A , CM000664.2:g.32238296C>A GRCh38
NC_000002.11:g.32463365C>A , CM000664.1:g.32463365C>A GRCh37
NC_000002.10:g.32316869C>A NCBI36
NG_041780.1:g.32448G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652197.2:c.50G>T ENSP00000498301.2:p.Gly17Val
ENST00000402280.6:c.2357G>T MANE Select ENSP00000385428.1:p.Gly786Val
ENST00000404025.3:c.*63G>T ENSP00000385090.3:n.*63G>T
ENST00000652197.1:c.*87G>T ENSP00000498301.1:n.*87G>T
ENST00000342905.10:c.362G>T ENSP00000339666.6:p.Gly121Val
ENST00000360906.9:c.2357G>T ENSP00000354159.5:p.Gly786Val
ENST00000402280.5:c.2357G>T ENSP00000385428.1:p.Gly786Val
ENST00000404025.2:c.2357G>T ENSP00000385090.2:p.Gly786Val
NM_001199138.1:c.2357G>T NP_001186067.1:p.Gly786Val
NM_001199139.1:c.2357G>T NP_001186068.1:p.Gly786Val
NM_001302504.1:c.362G>T NP_001289433.1:p.Gly121Val
NM_021209.4:c.2357G>T NP_067032.3:p.Gly786Val
XR_001738872.1:n.2623G>T
NM_001199138.2:c.2357G>T MANE Select NP_001186067.1:p.Gly786Val
Search 100 bp 5'
Search 100 bp 3'