Canonical Allele Identifier: CA346519310

Gene: NLRC4

Linked Data

• MyVariant Identifiers: chr2:g.32449692T>A (hg19) ; chr2:g.32224623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32224623T>A , CM000664.2:g.32224623T>A	GRCh38
NC_000002.11:g.32449692T>A , CM000664.1:g.32449692T>A	GRCh37
NC_000002.10:g.32303196T>A	NCBI36
NG_041780.1:g.46121A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.618A>T	ENSP00000498301.2:p.Lys206Asn
ENST00000402280.6:c.2925A>T MANE Select	ENSP00000385428.1:p.Lys975Asn
ENST00000404025.3:c.*631A>T	ENSP00000385090.3:n.*631A>T
ENST00000652197.1:c.*655A>T	ENSP00000498301.1:n.*655A>T
ENST00000342905.10:c.930A>T	ENSP00000339666.6:p.Lys310Asn
ENST00000360906.9:c.2925A>T	ENSP00000354159.5:p.Lys975Asn
ENST00000402280.5:c.2925A>T	ENSP00000385428.1:p.Lys975Asn
ENST00000404025.2:c.2925A>T	ENSP00000385090.2:p.Lys975Asn
NM_001199138.1:c.2925A>T	NP_001186067.1:p.Lys975Asn
NM_001199139.1:c.2925A>T	NP_001186068.1:p.Lys975Asn
NM_001302504.1:c.930A>T	NP_001289433.1:p.Lys310Asn
NM_021209.4:c.2925A>T	NP_067032.3:p.Lys975Asn
NM_001199138.2:c.2925A>T MANE Select	NP_001186067.1:p.Lys975Asn