Canonical Allele Identifier: CA4205121
Gene: NOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1235615
ClinVar RCV Id: RCV001618156
dbSNP Id: rs2075820
gnomAD v2: 7-30492237-C-T
gnomAD v3: 7-30452621-C-T
gnomAD v4: 7-30452621-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30452621C>T , CM000669.2:g.30452621C>T GRCh38
NC_000007.13:g.30492237C>T , CM000669.1:g.30492237C>T GRCh37
NC_000007.12:g.30458762C>T NCBI36
NG_013025.1:g.31157G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222823.9:c.796G>A MANE Select ENSP00000222823.4:p.Glu266Lys
ENST00000222823.8:c.796G>A ENSP00000222823.4:p.Glu266Lys
ENST00000434755.5:c.796G>A ENSP00000416946.1:p.Glu266Lys
NM_006092.2:c.796G>A NP_006083.1:p.Glu266Lys
XM_005249568.1:c.796G>A XP_005249625.1:p.Glu266Lys
XM_005249572.1:c.796G>A XP_005249629.1:p.Glu266Lys
XM_005249576.1:c.52G>A XP_005249633.1:p.Glu18Lys
XM_006715633.2:c.796G>A XP_006715696.1:p.Glu266Lys
XM_011515079.1:c.796G>A XP_011513381.1:p.Glu266Lys
XM_011515080.1:c.796G>A XP_011513382.1:p.Glu266Lys
XM_011515081.1:c.796G>A XP_011513383.1:p.Glu266Lys
XM_011515082.1:c.796G>A XP_011513384.1:p.Glu266Lys
XM_011515083.1:c.796G>A XP_011513385.1:p.Glu266Lys
XM_011515084.1:c.796G>A XP_011513386.1:p.Glu266Lys
XM_011515085.1:c.796G>A XP_011513387.1:p.Glu266Lys
XM_011515086.1:c.796G>A XP_011513388.1:p.Glu266Lys
XM_011515087.1:c.796G>A XP_011513389.1:p.Glu266Lys
XM_011515088.1:c.796G>A XP_011513390.1:p.Glu266Lys
XR_926907.1:n.1374G>A
XR_926908.1:n.1374G>A
XR_926909.1:n.1374G>A
XR_926910.1:n.1374G>A
NM_001354849.1:c.796G>A NP_001341778.1:p.Glu266Lys
NM_006092.3:c.796G>A NP_006083.1:p.Glu266Lys
NR_149002.1:n.1408G>A
XM_011515080.2:c.796G>A XP_011513382.1:p.Glu266Lys
XM_011515081.2:c.796G>A XP_011513383.1:p.Glu266Lys
XM_011515088.2:c.796G>A XP_011513390.1:p.Glu266Lys
XM_017011674.1:c.796G>A XP_016867163.1:p.Glu266Lys
XR_001744529.1:n.1374G>A
XR_001744530.1:n.1374G>A
XR_002956406.1:n.1322G>A
XR_926908.2:n.1374G>A
XR_926909.2:n.1374G>A
NM_006092.4:c.796G>A MANE Select NP_006083.1:p.Glu266Lys
NM_001354849.2:c.796G>A NP_001341778.1:p.Glu266Lys
NR_149002.2:n.1326G>A