Canonical Allele Identifier: CA425461378
Community Standard Title: NM_001199138.2(NLRC4):c.2904G>C (p.Val968=)
Gene: NLRC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32224644C>G , CM000664.2:g.32224644C>G GRCh38
NC_000002.11:g.32449713C>G , CM000664.1:g.32449713C>G GRCh37
NC_000002.10:g.32303217C>G NCBI36
NG_041780.1:g.46100G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001199138.2:c.2904G>C MANE Select NP_001186067.1:p.Val968=
ENST00000402280.6:c.2904G>C MANE Select ENSP00000385428.1:p.Val968=
NM_001199138.1:c.2904G>C NP_001186067.1:p.Val968=
NM_001199139.1:c.2904G>C NP_001186068.1:p.Val968=
NM_001302504.1:c.909G>C NP_001289433.1:p.Val303=
NM_021209.4:c.2904G>C NP_067032.3:p.Val968=
ENST00000342905.10:c.909G>C ENSP00000339666.6:p.Val303=
ENST00000360906.9:c.2904G>C ENSP00000354159.5:p.Val968=
ENST00000402280.5:c.2904G>C ENSP00000385428.1:p.Val968=
ENST00000404025.2:c.2904G>C ENSP00000385090.2:p.Val968=
ENST00000404025.3:c.*610G>C ENSP00000385090.3:n.*610G>C
ENST00000652197.1:c.*634G>C ENSP00000498301.1:n.*634G>C
ENST00000652197.2:c.597G>C ENSP00000498301.2:p.Val199=