Canonical Allele Identifier: CA1601971
Community Standard Title: NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)
Gene: NLRC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32250314C>G , CM000664.2:g.32250314C>G GRCh38
NC_000002.11:g.32475383C>G , CM000664.1:g.32475383C>G GRCh37
NC_000002.10:g.32328887C>G NCBI36
NG_041780.1:g.20430G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001199138.2:c.1550G>C MANE Select NP_001186067.1:p.Cys517Ser
ENST00000402280.6:c.1550G>C MANE Select ENSP00000385428.1:p.Cys517Ser
NM_001199138.1:c.1550G>C NP_001186067.1:p.Cys517Ser
NM_001199139.1:c.1550G>C NP_001186068.1:p.Cys517Ser
NM_001302504.1:c.262+2105G>C NP_001289433.1:n.262+2105G>C
NM_021209.4:c.1550G>C NP_067032.3:p.Cys517Ser
ENST00000342905.10:c.262+2105G>C ENSP00000339666.6:n.262+2105G>C
ENST00000360906.9:c.1550G>C ENSP00000354159.5:p.Cys517Ser
ENST00000402280.5:c.1550G>C ENSP00000385428.1:p.Cys517Ser
ENST00000404025.2:c.1550G>C ENSP00000385090.2:p.Cys517Ser
ENST00000404025.3:c.1550G>C ENSP00000385090.3:p.Cys517Ser
ENST00000652197.1:c.1550G>C ENSP00000498301.1:p.Cys517Ser
ENST00000652197.2:c.-76+6461G>C ENSP00000498301.2:n.-76+6461G>C
XM_011533008.1:c.1550G>C XP_011531310.1:p.Cys517Ser
XM_017004619.1:c.1550G>C XP_016860108.1:p.Cys517Ser
XR_001738872.1:n.1811G>C