Canonical Allele Identifier: CA116780

Gene: NLRP3

Linked Data

• ClinVar Variation Id: 4373
• ClinVar RCV Id: RCV000004621 ; RCV000084171 ; RCV001091235 ; RCV001225906
• dbSNP Id: rs121908149
• MyVariant Identifiers: chr1:g.247587806C>T (hg19) ; chr1:g.247424504C>T (hg38)
• PubMed: PMID:11687797

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.247424504C>T , CM000663.2:g.247424504C>T	GRCh38
NC_000001.10:g.247587806C>T , CM000663.1:g.247587806C>T	GRCh37
NC_000001.9:g.245654429C>T	NCBI36
NG_007509.2:g.13332C>T , LRG_197:g.13332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697350.1:c.1055C>T	ENSP00000513275.1:p.Ala352Val
ENST00000336119.8:c.1055C>T MANE Select	ENSP00000337383.4:p.Ala352Val
ENST00000348069.7:c.1055C>T	ENSP00000294752.4:p.Ala352Val
ENST00000366496.7:c.1055C>T	ENSP00000355452.3:p.Ala352Val
ENST00000391827.3:c.1055C>T	ENSP00000375703.3:p.Ala352Val
ENST00000391828.8:c.1055C>T	ENSP00000375704.4:p.Ala352Val
ENST00000474792.2:c.1055C>T	ENSP00000493937.2:p.Ala352Val
ENST00000642259.1:c.920C>T	ENSP00000494332.1:p.Ala307Val
ENST00000643234.2:c.1055C>T	ENSP00000493674.2:p.Ala352Val
ENST00000336119.7:c.1061C>T	ENSP00000337383.3:p.Ala354Val
ENST00000348069.6:c.1061C>T	ENSP00000294752.3:p.Ala354Val
ENST00000366496.6:c.1061C>T	ENSP00000355452.2:p.Ala354Val
ENST00000366497.6:c.1061C>T	ENSP00000355453.2:p.Ala354Val
ENST00000391827.2:c.1061C>T	ENSP00000375703.2:p.Ala354Val
ENST00000391828.7:c.1061C>T	ENSP00000375704.3:p.Ala354Val
ENST00000474792.1:n.1236C>T
NM_001079821.2:c.1061C>T	NP_001073289.1:p.Ala354Val
NM_001127461.2:c.1061C>T	NP_001120933.1:p.Ala354Val
NM_001127462.2:c.1061C>T	NP_001120934.1:p.Ala354Val
NM_001243133.1:c.1055C>T	NP_001230062.1:p.Ala352Val
NM_004895.4:c.1061C>T , LRG_197t1:c.1061C>T	NP_004886.3:p.Ala354Val
NM_183395.2:c.1061C>T	NP_899632.1:p.Ala354Val
XM_005273036.2:c.1061C>T	XP_005273093.1:p.Ala354Val
XM_005273037.2:c.1061C>T	XP_005273094.1:p.Ala354Val
XM_011544048.1:c.1061C>T	XP_011542350.1:p.Ala354Val
XM_011544049.1:c.1061C>T	XP_011542351.1:p.Ala354Val
XM_011544050.1:c.1061C>T	XP_011542352.1:p.Ala354Val
XM_011544051.1:c.1061C>T	XP_011542353.1:p.Ala354Val
XM_011544052.1:c.1061C>T	XP_011542354.1:p.Ala354Val
XM_011544053.1:c.1061C>T	XP_011542355.1:p.Ala354Val
XM_011544054.1:c.1061C>T	XP_011542356.1:p.Ala354Val
XM_011544055.1:c.1061C>T	XP_011542357.1:p.Ala354Val
XM_011544048.2:c.1061C>T	XP_011542350.1:p.Ala354Val
XM_017000181.1:c.1061C>T	XP_016855670.1:p.Ala354Val
XM_017000182.1:c.1061C>T	XP_016855671.1:p.Ala354Val
XM_017000183.1:c.1061C>T	XP_016855672.1:p.Ala354Val
XM_017000184.1:c.1061C>T	XP_016855673.1:p.Ala354Val
XM_024452862.1:c.1061C>T	XP_024308630.1:p.Ala354Val
XM_024452874.1:c.1061C>T	XP_024308642.1:p.Ala354Val
NM_001079821.3:c.1055C>T	NP_001073289.2:p.Ala352Val
NM_001127461.3:c.1055C>T	NP_001120933.2:p.Ala352Val
NM_001127462.3:c.1055C>T	NP_001120934.2:p.Ala352Val
NM_001243133.2:c.1055C>T MANE Select	NP_001230062.1:p.Ala352Val
NM_004895.5:c.1061C>T	NP_004886.3:p.Ala354Val
NM_183395.3:c.1055C>T	NP_899632.2:p.Ala352Val