Canonical Allele Identifier: CA16043656
Gene: NLRC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 374310
ClinVar RCV Id: RCV000414888
dbSNP Id: rs1057518687
MyVariant Identifiers: chr2:g.32476421G>A (hg19) chr2:g.32251352G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32251352G>A , CM000664.2:g.32251352G>A GRCh38
NC_000002.11:g.32476421G>A , CM000664.1:g.32476421G>A GRCh37
NC_000002.10:g.32329925G>A NCBI36
NG_041780.1:g.19392C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000652197.2:c.-76+5423C>T ENSP00000498301.2:n.-76+5423C>T
ENST00000402280.6:c.512C>T MANE Select ENSP00000385428.1:p.Ser171Phe
ENST00000404025.3:c.512C>T ENSP00000385090.3:p.Ser171Phe
ENST00000652197.1:c.512C>T ENSP00000498301.1:p.Ser171Phe
ENST00000342905.10:c.262+1067C>T ENSP00000339666.6:n.262+1067C>T
ENST00000360906.9:c.512C>T ENSP00000354159.5:p.Ser171Phe
ENST00000402280.5:c.512C>T ENSP00000385428.1:p.Ser171Phe
ENST00000404025.2:c.512C>T ENSP00000385090.2:p.Ser171Phe
NM_001199138.1:c.512C>T NP_001186067.1:p.Ser171Phe
NM_001199139.1:c.512C>T NP_001186068.1:p.Ser171Phe
NM_001302504.1:c.262+1067C>T NP_001289433.1:n.262+1067C>T
NM_021209.4:c.512C>T NP_067032.3:p.Ser171Phe
XM_011533008.1:c.512C>T XP_011531310.1:p.Ser171Phe
XM_017004619.1:c.512C>T XP_016860108.1:p.Ser171Phe
XR_001738872.1:n.773C>T
NM_001199138.2:c.512C>T MANE Select NP_001186067.1:p.Ser171Phe
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