Canonical Allele Identifier: CA425621253

Gene: NLRC4

Linked Data

• gnomAD v4: 2-32251282-C-A
• MyVariant Identifiers: chr2:g.32476351C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251282C>A , CM000664.2:g.32251282C>A	GRCh38
NC_000002.11:g.32476351C>A , CM000664.1:g.32476351C>A	GRCh37
NC_000002.10:g.32329855C>A	NCBI36
NG_041780.1:g.19462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5493G>T	ENSP00000498301.2:n.-76+5493G>T
ENST00000402280.6:c.582G>T MANE Select	ENSP00000385428.1:p.Leu194=
ENST00000404025.3:c.582G>T	ENSP00000385090.3:p.Leu194=
ENST00000652197.1:c.582G>T	ENSP00000498301.1:p.Leu194=
ENST00000342905.10:c.262+1137G>T	ENSP00000339666.6:n.262+1137G>T
ENST00000360906.9:c.582G>T	ENSP00000354159.5:p.Leu194=
ENST00000402280.5:c.582G>T	ENSP00000385428.1:p.Leu194=
ENST00000404025.2:c.582G>T	ENSP00000385090.2:p.Leu194=
NM_001199138.1:c.582G>T	NP_001186067.1:p.Leu194=
NM_001199139.1:c.582G>T	NP_001186068.1:p.Leu194=
NM_001302504.1:c.262+1137G>T	NP_001289433.1:n.262+1137G>T
NM_021209.4:c.582G>T	NP_067032.3:p.Leu194=
XM_011533008.1:c.582G>T	XP_011531310.1:p.Leu194=
XM_017004619.1:c.582G>T	XP_016860108.1:p.Leu194=
XR_001738872.1:n.843G>T
NM_001199138.2:c.582G>T MANE Select	NP_001186067.1:p.Leu194=