Canonical Allele Identifier: CA1495150

Gene: NLRP3

Linked Data

• ClinVar Variation Id: 389680
• ClinVar RCV Id: RCV000441223 ; RCV000978135 ; RCV002263689 ; RCV002488958
• dbSNP Id: rs201102829
• ExAC: 1:247592908 T / A
• gnomAD v2: 1-247592908-T-A
• gnomAD v3: 1-247429606-T-A
• gnomAD v4: 1-247429606-T-A
• MyVariant Identifiers: chr1:g.247592908T>A (hg19) ; chr1:g.247429606T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.247429606T>A , CM000663.2:g.247429606T>A	GRCh38
NC_000001.10:g.247592908T>A , CM000663.1:g.247592908T>A	GRCh37
NC_000001.9:g.245659531T>A	NCBI36
NG_007509.2:g.18434T>A , LRG_197:g.18434T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697350.1:c.2172T>A	ENSP00000513275.1:p.Thr724=
ENST00000336119.8:c.2172T>A MANE Select	ENSP00000337383.4:p.Thr724=
ENST00000348069.7:c.2150+4007T>A	ENSP00000294752.4:n.2150+4007T>A
ENST00000366496.7:c.2172T>A	ENSP00000355452.3:p.Thr724=
ENST00000391827.3:c.2150+4007T>A	ENSP00000375703.3:n.2150+4007T>A
ENST00000391828.8:c.2172T>A	ENSP00000375704.4:p.Thr724=
ENST00000642259.1:c.2208T>A	ENSP00000494332.1:n.2208T>A
ENST00000643234.2:c.2172T>A	ENSP00000493674.2:p.Thr724=
ENST00000336119.7:c.2178T>A	ENSP00000337383.3:p.Thr726=
ENST00000348069.6:c.2156+4007T>A	ENSP00000294752.3:n.2156+4007T>A
ENST00000366496.6:c.2178T>A	ENSP00000355452.2:p.Thr726=
ENST00000366497.6:c.2178T>A	ENSP00000355453.2:p.Thr726=
ENST00000391827.2:c.2156+4007T>A	ENSP00000375703.2:n.2156+4007T>A
ENST00000391828.7:c.2178T>A	ENSP00000375704.3:p.Thr726=
NM_001079821.2:c.2178T>A	NP_001073289.1:p.Thr726=
NM_001127461.2:c.2178T>A	NP_001120933.1:p.Thr726=
NM_001127462.2:c.2156+4007T>A	NP_001120934.1:n.2156+4007T>A
NM_001243133.1:c.2172T>A	NP_001230062.1:p.Thr724=
NM_004895.4:c.2178T>A , LRG_197t1:c.2178T>A	NP_004886.3:p.Thr726=
NM_183395.2:c.2156+4007T>A	NP_899632.1:n.2156+4007T>A
XM_005273036.2:c.2178T>A	XP_005273093.1:p.Thr726=
XM_005273037.2:c.2178T>A	XP_005273094.1:p.Thr726=
XM_011544048.1:c.2178T>A	XP_011542350.1:p.Thr726=
XM_011544049.1:c.2178T>A	XP_011542351.1:p.Thr726=
XM_011544050.1:c.2178T>A	XP_011542352.1:p.Thr726=
XM_011544051.1:c.2178T>A	XP_011542353.1:p.Thr726=
XM_011544052.1:c.2156+4007T>A	XP_011542354.1:n.2156+4007T>A
XM_011544053.1:c.2178T>A	XP_011542355.1:p.Thr726=
XM_011544054.1:c.2156+4007T>A	XP_011542356.1:n.2156+4007T>A
XM_011544055.1:c.2156+4007T>A	XP_011542357.1:n.2156+4007T>A
XM_011544048.2:c.2178T>A	XP_011542350.1:p.Thr726=
XM_017000181.1:c.2178T>A	XP_016855670.1:p.Thr726=
XM_017000182.1:c.2178T>A	XP_016855671.1:p.Thr726=
XM_017000183.1:c.2156+4007T>A	XP_016855672.1:n.2156+4007T>A
XM_017000184.1:c.2156+4007T>A	XP_016855673.1:n.2156+4007T>A
XM_024452862.1:c.2178T>A	XP_024308630.1:p.Thr726=
XM_024452874.1:c.2156+4007T>A	XP_024308642.1:n.2156+4007T>A
NM_001079821.3:c.2172T>A	NP_001073289.2:p.Thr724=
NM_001127461.3:c.2172T>A	NP_001120933.2:p.Thr724=
NM_001127462.3:c.2150+4007T>A	NP_001120934.2:n.2150+4007T>A
NM_001243133.2:c.2172T>A MANE Select	NP_001230062.1:p.Thr724=
NM_004895.5:c.2178T>A	NP_004886.3:p.Thr726=
NM_183395.3:c.2150+4007T>A	NP_899632.2:n.2150+4007T>A