Canonical Allele Identifier: CA4205112
Gene: NOD1 HGNC NCBI

Linked Data

dbSNP Id: rs563706099
gnomAD v2: 7-30492210-A-G
gnomAD v3: 7-30452594-A-G
gnomAD v4: 7-30452594-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30452594A>G , CM000669.2:g.30452594A>G GRCh38
NC_000007.13:g.30492210A>G , CM000669.1:g.30492210A>G GRCh37
NC_000007.12:g.30458735A>G NCBI36
NG_013025.1:g.31184T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222823.9:c.823T>C MANE Select ENSP00000222823.4:p.Phe275Leu
ENST00000222823.8:c.823T>C ENSP00000222823.4:p.Phe275Leu
ENST00000434755.5:c.823T>C ENSP00000416946.1:p.Phe275Leu
NM_006092.2:c.823T>C NP_006083.1:p.Phe275Leu
XM_005249568.1:c.823T>C XP_005249625.1:p.Phe275Leu
XM_005249572.1:c.823T>C XP_005249629.1:p.Phe275Leu
XM_005249576.1:c.79T>C XP_005249633.1:p.Phe27Leu
XM_006715633.2:c.823T>C XP_006715696.1:p.Phe275Leu
XM_011515079.1:c.823T>C XP_011513381.1:p.Phe275Leu
XM_011515080.1:c.823T>C XP_011513382.1:p.Phe275Leu
XM_011515081.1:c.823T>C XP_011513383.1:p.Phe275Leu
XM_011515082.1:c.823T>C XP_011513384.1:p.Phe275Leu
XM_011515083.1:c.823T>C XP_011513385.1:p.Phe275Leu
XM_011515084.1:c.823T>C XP_011513386.1:p.Phe275Leu
XM_011515085.1:c.823T>C XP_011513387.1:p.Phe275Leu
XM_011515086.1:c.823T>C XP_011513388.1:p.Phe275Leu
XM_011515087.1:c.823T>C XP_011513389.1:p.Phe275Leu
XM_011515088.1:c.823T>C XP_011513390.1:p.Phe275Leu
XR_926907.1:n.1401T>C
XR_926908.1:n.1401T>C
XR_926909.1:n.1401T>C
XR_926910.1:n.1401T>C
NM_001354849.1:c.823T>C NP_001341778.1:p.Phe275Leu
NM_006092.3:c.823T>C NP_006083.1:p.Phe275Leu
NR_149002.1:n.1435T>C
XM_011515080.2:c.823T>C XP_011513382.1:p.Phe275Leu
XM_011515081.2:c.823T>C XP_011513383.1:p.Phe275Leu
XM_011515088.2:c.823T>C XP_011513390.1:p.Phe275Leu
XM_017011674.1:c.823T>C XP_016867163.1:p.Phe275Leu
XR_001744529.1:n.1401T>C
XR_001744530.1:n.1401T>C
XR_002956406.1:n.1349T>C
XR_926908.2:n.1401T>C
XR_926909.2:n.1401T>C
NM_006092.4:c.823T>C MANE Select NP_006083.1:p.Phe275Leu
NM_001354849.2:c.823T>C NP_001341778.1:p.Phe275Leu
NR_149002.2:n.1353T>C