Canonical Allele Identifier: CA10948925
Gene: NLRP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1169053
ClinVar RCV Id: RCV001519829
dbSNP Id: rs4612666

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.247435768T>C , CM000663.2:g.247435768T>C GRCh38
NC_000001.10:g.247599070T>C , CM000663.1:g.247599070T>C GRCh37
NC_000001.9:g.245665693T>C NCBI36
NG_007509.2:g.24596T>C , LRG_197:g.24596T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697350.1:c.2493-202T>C ENSP00000513275.1:n.2493-202T>C
ENST00000336119.8:c.2493-202T>C MANE Select ENSP00000337383.4:n.2493-202T>C
ENST00000348069.7:c.2321+1495T>C ENSP00000294752.4:n.2321+1495T>C
ENST00000366496.7:c.2492+1495T>C ENSP00000355452.3:n.2492+1495T>C
ENST00000391827.3:c.2322-202T>C ENSP00000375703.3:n.2322-202T>C
ENST00000391828.8:c.2493-202T>C ENSP00000375704.4:n.2493-202T>C
ENST00000642259.1:c.2529-202T>C ENSP00000494332.1:n.2529-202T>C
ENST00000643234.2:c.2433-202T>C ENSP00000493674.2:n.2433-202T>C
ENST00000336119.7:c.2499-202T>C ENSP00000337383.3:n.2499-202T>C
ENST00000348069.6:c.2327+1495T>C ENSP00000294752.3:n.2327+1495T>C
ENST00000366496.6:c.2498+1495T>C ENSP00000355452.2:n.2498+1495T>C
ENST00000366497.6:c.2498+1495T>C ENSP00000355453.2:n.2498+1495T>C
ENST00000391827.2:c.2328-202T>C ENSP00000375703.2:n.2328-202T>C
ENST00000391828.7:c.2499-202T>C ENSP00000375704.3:n.2499-202T>C
NM_001079821.2:c.2499-202T>C NP_001073289.1:n.2499-202T>C
NM_001127461.2:c.2498+1495T>C NP_001120933.1:n.2498+1495T>C
NM_001127462.2:c.2328-202T>C NP_001120934.1:n.2328-202T>C
NM_001243133.1:c.2493-202T>C NP_001230062.1:n.2493-202T>C
NM_004895.4:c.2499-202T>C , LRG_197t1:c.2499-202T>C NP_004886.3:n.2499-202T>C
NM_183395.2:c.2327+1495T>C NP_899632.1:n.2327+1495T>C
XM_005273036.2:c.2499-202T>C XP_005273093.1:n.2499-202T>C
XM_005273037.2:c.2499-202T>C XP_005273094.1:n.2499-202T>C
XM_011544048.1:c.2499-202T>C XP_011542350.1:n.2499-202T>C
XM_011544049.1:c.2499-202T>C XP_011542351.1:n.2499-202T>C
XM_011544050.1:c.2499-202T>C XP_011542352.1:n.2499-202T>C
XM_011544051.1:c.2499-202T>C XP_011542353.1:n.2499-202T>C
XM_011544052.1:c.2328-202T>C XP_011542354.1:n.2328-202T>C
XM_011544053.1:c.2327+6013T>C XP_011542355.1:n.2327+6013T>C
XM_011544054.1:c.2327+1495T>C XP_011542356.1:n.2327+1495T>C
XM_011544055.1:c.2157-8204T>C XP_011542357.1:n.2157-8204T>C
XM_011544048.2:c.2499-202T>C XP_011542350.1:n.2499-202T>C
XM_017000181.1:c.2499-202T>C XP_016855670.1:n.2499-202T>C
XM_017000182.1:c.2499-202T>C XP_016855671.1:n.2499-202T>C
XM_017000183.1:c.2328-202T>C XP_016855672.1:n.2328-202T>C
XM_017000184.1:c.2327+1495T>C XP_016855673.1:n.2327+1495T>C
XM_024452862.1:c.2327+6013T>C XP_024308630.1:n.2327+6013T>C
XM_024452874.1:c.2157-8204T>C XP_024308642.1:n.2157-8204T>C
NM_001079821.3:c.2493-202T>C NP_001073289.2:n.2493-202T>C
NM_001127461.3:c.2492+1495T>C NP_001120933.2:n.2492+1495T>C
NM_001127462.3:c.2322-202T>C NP_001120934.2:n.2322-202T>C
NM_001243133.2:c.2493-202T>C MANE Select NP_001230062.1:n.2493-202T>C
NM_004895.5:c.2499-202T>C NP_004886.3:n.2499-202T>C
NM_183395.3:c.2321+1495T>C NP_899632.2:n.2321+1495T>C