Canonical Allele Identifier: CA44753787

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 1643327
• ClinVar RCV Id: RCV002136033
• dbSNP Id: rs1050080627
• gnomAD v4: 2-32251351-A-C
• MyVariant Identifiers: chr2:g.32476420A>C (hg19) ; chr2:g.32251351A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251351A>C , CM000664.2:g.32251351A>C	GRCh38
NC_000002.11:g.32476420A>C , CM000664.1:g.32476420A>C	GRCh37
NC_000002.10:g.32329924A>C	NCBI36
NG_041780.1:g.19393T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5424T>G	ENSP00000498301.2:n.-76+5424T>G
ENST00000402280.6:c.513T>G MANE Select	ENSP00000385428.1:p.Ser171=
ENST00000404025.3:c.513T>G	ENSP00000385090.3:p.Ser171=
ENST00000652197.1:c.513T>G	ENSP00000498301.1:p.Ser171=
ENST00000342905.10:c.262+1068T>G	ENSP00000339666.6:n.262+1068T>G
ENST00000360906.9:c.513T>G	ENSP00000354159.5:p.Ser171=
ENST00000402280.5:c.513T>G	ENSP00000385428.1:p.Ser171=
ENST00000404025.2:c.513T>G	ENSP00000385090.2:p.Ser171=
NM_001199138.1:c.513T>G	NP_001186067.1:p.Ser171=
NM_001199139.1:c.513T>G	NP_001186068.1:p.Ser171=
NM_001302504.1:c.262+1068T>G	NP_001289433.1:n.262+1068T>G
NM_021209.4:c.513T>G	NP_067032.3:p.Ser171=
XM_011533008.1:c.513T>G	XP_011531310.1:p.Ser171=
XM_017004619.1:c.513T>G	XP_016860108.1:p.Ser171=
XR_001738872.1:n.774T>G
NM_001199138.2:c.513T>G MANE Select	NP_001186067.1:p.Ser171=