Canonical Allele Identifier: CA9681964

Gene: NLRP11

Linked Data

• ClinVar Variation Id: 2650542
• ClinVar RCV Id: RCV003415461
• dbSNP Id: rs140090548
• ExAC: 19:56320629 T / G
• gnomAD v2: 19-56320629-T-G
• gnomAD v3: 19-55809263-T-G
• gnomAD v4: 19-55809263-T-G
• MyVariant Identifiers: chr19:g.56320629T>G (hg19) ; chr19:g.55809263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809263T>G , CM000681.2:g.55809263T>G	GRCh38
NC_000019.9:g.56320629T>G , CM000681.1:g.56320629T>G	GRCh37
NC_000019.8:g.61012441T>G	NCBI36
NG_054722.1:g.32500A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1347A>C MANE Select	ENSP00000466285.1:p.Ile449=
ENST00000589093.5:c.1347A>C	ENSP00000466285.1:p.Ile449=
ENST00000589824.6:c.1347A>C	ENSP00000468082.1:p.Ile449=
ENST00000590409.5:c.1050A>C	ENSP00000466582.1:p.Ile350=
ENST00000592953.5:c.1050A>C	ENSP00000468196.1:p.Ile350=
ENST00000593244.5:c.1347A>C	ENSP00000467988.1:p.Ile449=
NM_001297743.1:c.1050A>C	NP_001284672.1:p.Ile350=
NM_145007.3:c.1347A>C	NP_659444.2:p.Ile449=
NM_001297743.3:c.1050A>C	NP_001284672.1:p.Ile350=
NM_001385451.2:c.1347A>C	NP_001372380.1:p.Ile449=
NM_001385453.2:c.1347A>C	NP_001372382.1:p.Ile449=
NM_145007.5:c.1347A>C	NP_659444.2:p.Ile449=
NR_169620.2:n.1538A>C
NR_169621.2:n.1871A>C
NR_169622.2:n.796-7524A>C
NM_001394894.2:c.1347A>C MANE Select	NP_001381823.1:p.Ile449=