Canonical Allele Identifier: CA9684501

Gene: NLRP8

Linked Data

• ClinVar Variation Id: 2343958
• ClinVar RCV Id: RCV004186142
• dbSNP Id: rs151156945
• ExAC: 19:56467076 A / C
• gnomAD v2: 19-56467076-A-C
• gnomAD v3: 19-55955710-A-C
• gnomAD v4: 19-55955710-A-C
• MyVariant Identifiers: chr19:g.56467076A>C (hg19) ; chr19:g.55955710A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55955710A>C , CM000681.2:g.55955710A>C	GRCh38
NC_000019.9:g.56467076A>C , CM000681.1:g.56467076A>C	GRCh37
NC_000019.8:g.61158888A>C	NCBI36
NG_051553.1:g.12879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291971.7:c.1652A>C MANE Select	ENSP00000291971.3:p.Tyr551Ser
ENST00000590542.1:c.1652A>C	ENSP00000468121.1:p.Tyr551Ser
NM_001317000.1:c.1652A>C	NP_001303929.1:p.Tyr551Ser
NM_176811.2:c.1652A>C MANE Select	NP_789781.2:p.Tyr551Ser