Canonical Allele Identifier: CA1602097

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 938283
• ClinVar RCV Id: RCV001207476
• dbSNP Id: rs749177011
• ExAC: 2:32476215 G / A
• gnomAD v2: 2-32476215-G-A
• gnomAD v4: 2-32251146-G-A
• MyVariant Identifiers: chr2:g.32476215G>A (hg19) ; chr2:g.32251146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251146G>A , CM000664.2:g.32251146G>A	GRCh38
NC_000002.11:g.32476215G>A , CM000664.1:g.32476215G>A	GRCh37
NC_000002.10:g.32329719G>A	NCBI36
NG_041780.1:g.19598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5629C>T	ENSP00000498301.2:n.-76+5629C>T
ENST00000402280.6:c.718C>T MANE Select	ENSP00000385428.1:p.Arg240Trp
ENST00000404025.3:c.718C>T	ENSP00000385090.3:p.Arg240Trp
ENST00000652197.1:c.718C>T	ENSP00000498301.1:p.Arg240Trp
ENST00000342905.10:c.262+1273C>T	ENSP00000339666.6:n.262+1273C>T
ENST00000360906.9:c.718C>T	ENSP00000354159.5:p.Arg240Trp
ENST00000402280.5:c.718C>T	ENSP00000385428.1:p.Arg240Trp
ENST00000404025.2:c.718C>T	ENSP00000385090.2:p.Arg240Trp
NM_001199138.1:c.718C>T	NP_001186067.1:p.Arg240Trp
NM_001199139.1:c.718C>T	NP_001186068.1:p.Arg240Trp
NM_001302504.1:c.262+1273C>T	NP_001289433.1:n.262+1273C>T
NM_021209.4:c.718C>T	NP_067032.3:p.Arg240Trp
XM_011533008.1:c.718C>T	XP_011531310.1:p.Arg240Trp
XM_017004619.1:c.718C>T	XP_016860108.1:p.Arg240Trp
XR_001738872.1:n.979C>T
NM_001199138.2:c.718C>T MANE Select	NP_001186067.1:p.Arg240Trp