Canonical Allele Identifier: CA14649064

Gene: NLRP8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55986594C>A , CM000681.2:g.55986594C>A	GRCh38
NC_000019.9:g.56497960C>A , CM000681.1:g.56497960C>A	GRCh37
NC_000019.8:g.61189772C>A	NCBI36
NG_046924.1:g.4812C>A
NG_051553.1:g.43763C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291971.7:c.3048-1220C>A MANE Select	ENSP00000291971.3:n.3048-1220C>A
ENST00000590542.1:c.2991-1220C>A	ENSP00000468121.1:n.2991-1220C>A
NM_001317000.1:c.2991-1220C>A	NP_001303929.1:n.2991-1220C>A
NM_176811.2:c.3048-1220C>A MANE Select	NP_789781.2:n.3048-1220C>A