Canonical Allele Identifier: CA116800

Gene: NLRP3

Linked Data

• ClinVar Variation Id: 4378
• ClinVar RCV Id: RCV000004628 ; RCV000084248
• dbSNP Id: rs121908154
• MyVariant Identifiers: chr1:g.247587677T>C (hg19) ; chr1:g.247424375T>C (hg38)
• PubMed: PMID:12032915

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.247424375T>C , CM000663.2:g.247424375T>C	GRCh38
NC_000001.10:g.247587677T>C , CM000663.1:g.247587677T>C	GRCh37
NC_000001.9:g.245654300T>C	NCBI36
NG_007509.2:g.13203T>C , LRG_197:g.13203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697350.1:c.926T>C	ENSP00000513275.1:p.Phe309Ser
ENST00000336119.8:c.926T>C MANE Select	ENSP00000337383.4:p.Phe309Ser
ENST00000348069.7:c.926T>C	ENSP00000294752.4:p.Phe309Ser
ENST00000366496.7:c.926T>C	ENSP00000355452.3:p.Phe309Ser
ENST00000391827.3:c.926T>C	ENSP00000375703.3:p.Phe309Ser
ENST00000391828.8:c.926T>C	ENSP00000375704.4:p.Phe309Ser
ENST00000474792.2:c.926T>C	ENSP00000493937.2:p.Phe309Ser
ENST00000642259.1:c.791T>C	ENSP00000494332.1:p.Phe264Ser
ENST00000643234.2:c.926T>C	ENSP00000493674.2:p.Phe309Ser
ENST00000336119.7:c.932T>C	ENSP00000337383.3:p.Phe311Ser
ENST00000348069.6:c.932T>C	ENSP00000294752.3:p.Phe311Ser
ENST00000366496.6:c.932T>C	ENSP00000355452.2:p.Phe311Ser
ENST00000366497.6:c.932T>C	ENSP00000355453.2:p.Phe311Ser
ENST00000391827.2:c.932T>C	ENSP00000375703.2:p.Phe311Ser
ENST00000391828.7:c.932T>C	ENSP00000375704.3:p.Phe311Ser
ENST00000474792.1:n.1107T>C
NM_001079821.2:c.932T>C	NP_001073289.1:p.Phe311Ser
NM_001127461.2:c.932T>C	NP_001120933.1:p.Phe311Ser
NM_001127462.2:c.932T>C	NP_001120934.1:p.Phe311Ser
NM_001243133.1:c.926T>C	NP_001230062.1:p.Phe309Ser
NM_004895.4:c.932T>C , LRG_197t1:c.932T>C	NP_004886.3:p.Phe311Ser
NM_183395.2:c.932T>C	NP_899632.1:p.Phe311Ser
XM_005273036.2:c.932T>C	XP_005273093.1:p.Phe311Ser
XM_005273037.2:c.932T>C	XP_005273094.1:p.Phe311Ser
XM_011544048.1:c.932T>C	XP_011542350.1:p.Phe311Ser
XM_011544049.1:c.932T>C	XP_011542351.1:p.Phe311Ser
XM_011544050.1:c.932T>C	XP_011542352.1:p.Phe311Ser
XM_011544051.1:c.932T>C	XP_011542353.1:p.Phe311Ser
XM_011544052.1:c.932T>C	XP_011542354.1:p.Phe311Ser
XM_011544053.1:c.932T>C	XP_011542355.1:p.Phe311Ser
XM_011544054.1:c.932T>C	XP_011542356.1:p.Phe311Ser
XM_011544055.1:c.932T>C	XP_011542357.1:p.Phe311Ser
XM_011544048.2:c.932T>C	XP_011542350.1:p.Phe311Ser
XM_017000181.1:c.932T>C	XP_016855670.1:p.Phe311Ser
XM_017000182.1:c.932T>C	XP_016855671.1:p.Phe311Ser
XM_017000183.1:c.932T>C	XP_016855672.1:p.Phe311Ser
XM_017000184.1:c.932T>C	XP_016855673.1:p.Phe311Ser
XM_024452862.1:c.932T>C	XP_024308630.1:p.Phe311Ser
XM_024452874.1:c.932T>C	XP_024308642.1:p.Phe311Ser
NM_001079821.3:c.926T>C	NP_001073289.2:p.Phe309Ser
NM_001127461.3:c.926T>C	NP_001120933.2:p.Phe309Ser
NM_001127462.3:c.926T>C	NP_001120934.2:p.Phe309Ser
NM_001243133.2:c.926T>C MANE Select	NP_001230062.1:p.Phe309Ser
NM_004895.5:c.932T>C	NP_004886.3:p.Phe311Ser
NM_183395.3:c.926T>C	NP_899632.2:p.Phe309Ser