Canonical Allele Identifier: CA1601739
Community Standard Title: NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)
Gene: NLRC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32235554C>T , CM000664.2:g.32235554C>T GRCh38
NC_000002.11:g.32460623C>T , CM000664.1:g.32460623C>T GRCh37
NC_000002.10:g.32314127C>T NCBI36
NG_041780.1:g.35190G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001199138.2:c.2629G>A MANE Select NP_001186067.1:p.Val877Met
ENST00000402280.6:c.2629G>A MANE Select ENSP00000385428.1:p.Val877Met
NM_001199138.1:c.2629G>A NP_001186067.1:p.Val877Met
NM_001199139.1:c.2629G>A NP_001186068.1:p.Val877Met
NM_001302504.1:c.634G>A NP_001289433.1:p.Val212Met
NM_021209.4:c.2629G>A NP_067032.3:p.Val877Met
ENST00000342905.10:c.634G>A ENSP00000339666.6:p.Val212Met
ENST00000360906.9:c.2629G>A ENSP00000354159.5:p.Val877Met
ENST00000402280.5:c.2629G>A ENSP00000385428.1:p.Val877Met
ENST00000404025.2:c.2629G>A ENSP00000385090.2:p.Val877Met
ENST00000404025.3:c.*335G>A ENSP00000385090.3:n.*335G>A
ENST00000652197.1:c.*359G>A ENSP00000498301.1:n.*359G>A
ENST00000652197.2:c.322G>A ENSP00000498301.2:p.Val108Met
XR_001738872.1:n.2895G>A