Canonical Allele Identifier: CA230448

Gene: NLRP14

Linked Data

• ClinVar Variation Id: 103344
• ClinVar RCV Id: RCV000089604
• dbSNP Id: rs199475884
• ExAC: 11:7068006 C / G
• gnomAD v2: 11-7068006-C-G
• gnomAD v3: 11-7046775-C-G
• gnomAD v4: 11-7046775-C-G
• MyVariant Identifiers: chr11:g.7068006C>G (hg19) ; chr11:g.7046775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.7046775C>G , CM000673.2:g.7046775C>G	GRCh38
NC_000011.9:g.7068006C>G , CM000673.1:g.7068006C>G	GRCh37
NC_000011.8:g.7024582C>G	NCBI36
NG_046900.1:g.31330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299481.5:c.2066C>G MANE Select	ENSP00000299481.5:p.Ala689Gly
ENST00000299481.4:c.2066C>G	ENSP00000299481.4:p.Ala689Gly
NM_176822.3:c.2066C>G	NP_789792.1:p.Ala689Gly
XM_011520044.1:c.2066C>G	XP_011518346.1:p.Ala689Gly
XM_011520045.1:c.2066C>G	XP_011518347.1:p.Ala689Gly
NM_176822.4:c.2066C>G MANE Select	NP_789792.1:p.Ala689Gly