Canonical Allele Identifier: CA230092

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 103083
• ClinVar RCV Id: RCV000089343
• dbSNP Id: rs199476298
• MyVariant Identifiers: chr2:g.32460389G>A (hg19) ; chr2:g.32235320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32235320G>A , CM000664.2:g.32235320G>A	GRCh38
NC_000002.11:g.32460389G>A , CM000664.1:g.32460389G>A	GRCh37
NC_000002.10:g.32313893G>A	NCBI36
NG_041780.1:g.35424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.475+81C>T	ENSP00000498301.2:n.475+81C>T
ENST00000402280.6:c.2782+81C>T MANE Select	ENSP00000385428.1:n.2782+81C>T
ENST00000404025.3:c.*488+81C>T	ENSP00000385090.3:n.*488+81C>T
ENST00000652197.1:c.*512+81C>T	ENSP00000498301.1:n.*512+81C>T
ENST00000342905.10:c.787+81C>T	ENSP00000339666.6:n.787+81C>T
ENST00000360906.9:c.2782+81C>T	ENSP00000354159.5:n.2782+81C>T
ENST00000402280.5:c.2782+81C>T	ENSP00000385428.1:n.2782+81C>T
ENST00000404025.2:c.2782+81C>T	ENSP00000385090.2:n.2782+81C>T
NM_001199138.1:c.2782+81C>T	NP_001186067.1:n.2782+81C>T
NM_001199139.1:c.2782+81C>T	NP_001186068.1:n.2782+81C>T
NM_001302504.1:c.787+81C>T	NP_001289433.1:n.787+81C>T
NM_021209.4:c.2782+81C>T	NP_067032.3:n.2782+81C>T
XR_001738872.1:n.3048+81C>T
NM_001199138.2:c.2782+81C>T MANE Select	NP_001186067.1:n.2782+81C>T