Canonical Allele Identifier: CA10609714

Gene: NLRP3

Linked Data

• ClinVar Variation Id: 296956
• ClinVar RCV Id: RCV000284662 ; RCV000339908 ; RCV000379007
• dbSNP Id: rs10754558
• gnomAD v2: 1-247612036-G-C
• gnomAD v3: 1-247448734-G-C
• gnomAD v4: 1-247448734-G-C
• MyVariant Identifiers: chr1:g.247612036G>C (hg19) ; chr1:g.247448734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.247448734G>C , CM000663.2:g.247448734G>C	GRCh38
NC_000001.10:g.247612036G>C , CM000663.1:g.247612036G>C	GRCh37
NC_000001.9:g.245678659G>C	NCBI36
NG_007509.2:g.37562G>C , LRG_197:g.37562G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697350.1:c.*230G>C	ENSP00000513275.1:n.*230G>C
ENST00000336119.8:c.*230G>C MANE Select	ENSP00000337383.4:n.*230G>C
ENST00000348069.7:c.*230G>C	ENSP00000294752.4:n.*230G>C
ENST00000366496.7:c.*230G>C	ENSP00000355452.3:n.*230G>C
ENST00000391827.3:c.*230G>C	ENSP00000375703.3:n.*230G>C
ENST00000391828.8:c.*230G>C	ENSP00000375704.4:n.*230G>C
ENST00000642259.1:c.3371G>C	ENSP00000494332.1:n.3371G>C
ENST00000336119.7:c.*230G>C	ENSP00000337383.3:n.*230G>C
ENST00000348069.6:c.*230G>C	ENSP00000294752.3:n.*230G>C
ENST00000366496.6:c.*230G>C	ENSP00000355452.2:n.*230G>C
ENST00000366497.6:c.*230G>C	ENSP00000355453.2:n.*230G>C
ENST00000391828.7:c.*230G>C	ENSP00000375704.3:n.*230G>C
NM_001079821.2:c.*230G>C	NP_001073289.1:n.*230G>C
NM_001127461.2:c.*230G>C	NP_001120933.1:n.*230G>C
NM_001127462.2:c.*230G>C	NP_001120934.1:n.*230G>C
NM_001243133.1:c.*230G>C	NP_001230062.1:n.*230G>C
NM_004895.4:c.*230G>C , LRG_197t1:c.*230G>C	NP_004886.3:n.*230G>C
NM_183395.2:c.*230G>C	NP_899632.1:n.*230G>C
XM_005273036.2:c.*230G>C	XP_005273093.1:n.*230G>C
XM_005273037.2:c.*230G>C	XP_005273094.1:n.*230G>C
XM_011544048.1:c.*230G>C	XP_011542350.1:n.*230G>C
XM_011544049.1:c.*230G>C	XP_011542351.1:n.*230G>C
XM_011544050.1:c.*230G>C	XP_011542352.1:n.*230G>C
XM_011544051.1:c.*230G>C	XP_011542353.1:n.*230G>C
XM_011544052.1:c.*230G>C	XP_011542354.1:n.*230G>C
XM_011544053.1:c.*230G>C	XP_011542355.1:n.*230G>C
XM_011544054.1:c.*230G>C	XP_011542356.1:n.*230G>C
XM_011544055.1:c.*230G>C	XP_011542357.1:n.*230G>C
XM_011544048.2:c.*230G>C	XP_011542350.1:n.*230G>C
XM_017000181.1:c.*230G>C	XP_016855670.1:n.*230G>C
XM_017000182.1:c.*230G>C	XP_016855671.1:n.*230G>C
XM_017000183.1:c.*230G>C	XP_016855672.1:n.*230G>C
XM_017000184.1:c.*230G>C	XP_016855673.1:n.*230G>C
XM_024452862.1:c.*230G>C	XP_024308630.1:n.*230G>C
XM_024452874.1:c.*230G>C	XP_024308642.1:n.*230G>C
NM_001079821.3:c.*230G>C	NP_001073289.2:n.*230G>C
NM_001127461.3:c.*230G>C	NP_001120933.2:n.*230G>C
NM_001127462.3:c.*230G>C	NP_001120934.2:n.*230G>C
NM_001243133.2:c.*230G>C MANE Select	NP_001230062.1:n.*230G>C
NM_004895.5:c.*230G>C	NP_004886.3:n.*230G>C
NM_183395.3:c.*230G>C	NP_899632.2:n.*230G>C