Canonical Allele Identifier: CA407595767

Gene: NLRP8

Linked Data

• COSMIC: COSM1001738
• MyVariant Identifiers: chr19:g.56459355C>A (hg19) ; chr19:g.55947989C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55947989C>A , CM000681.2:g.55947989C>A	GRCh38
NC_000019.9:g.56459355C>A , CM000681.1:g.56459355C>A	GRCh37
NC_000019.8:g.61151167C>A	NCBI36
NG_051553.1:g.5158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291971.7:c.87C>A MANE Select	ENSP00000291971.3:p.Phe29Leu
ENST00000590542.1:c.87C>A	ENSP00000468121.1:p.Phe29Leu
NM_001317000.1:c.87C>A	NP_001303929.1:p.Phe29Leu
NM_176811.2:c.87C>A MANE Select	NP_789781.2:p.Phe29Leu