Canonical Allele Identifier: CA407862477

Gene: NLRP7

Linked Data

• dbSNP Id: rs2069119714
• gnomAD v4: 19-54939627-G-C
• MyVariant Identifiers: chr19:g.54939627G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54939627G>C , CM000681.2:g.54939627G>C	GRCh38
NC_000019.8:g.60142807G>C	NCBI36
NG_008056.1:g.12879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592784.6:c.1192C>G MANE Select	ENSP00000468706.1:p.Leu398Val
ENST00000328092.9:c.1192C>G	ENSP00000329568.5:p.Leu398Val
ENST00000340844.6:c.1192C>G	ENSP00000339491.2:p.Leu398Val
ENST00000586379.5:c.1192C>G	ENSP00000468243.1:p.Leu398Val
ENST00000588756.5:c.1192C>G	ENSP00000467123.1:p.Leu398Val
ENST00000590030.5:c.1192C>G	ENSP00000465520.1:p.Leu398Val
ENST00000592784.5:c.1192C>G	ENSP00000468706.1:p.Leu398Val
NM_001127255.1:c.1192C>G	NP_001120727.1:p.Leu398Val
NM_139176.3:c.1192C>G	NP_631915.2:p.Leu398Val
NM_206828.3:c.1192C>G	NP_996611.2:p.Leu398Val
XM_006723075.2:c.1192C>G	XP_006723138.1:p.Leu398Val
XM_006723076.2:c.1192C>G	XP_006723139.1:p.Leu398Val
XM_011526596.1:c.1276C>G	XP_011524898.1:p.Leu426Val
XM_011526597.1:c.1276C>G	XP_011524899.1:p.Leu426Val
XM_011526598.1:c.1276C>G	XP_011524900.1:p.Leu426Val
XM_011526599.1:c.1192C>G	XP_011524901.1:p.Leu398Val
XM_011526600.1:c.1192C>G	XP_011524902.1:p.Leu398Val
XM_011526601.1:c.1276C>G	XP_011524903.1:p.Leu426Val
XR_935761.1:n.1710C>G
XM_006723075.3:c.1192C>G	XP_006723138.1:p.Leu398Val
XM_006723076.3:c.1192C>G	XP_006723139.1:p.Leu398Val
XM_011526596.2:c.1276C>G	XP_011524898.1:p.Leu426Val
XM_011526599.2:c.1192C>G	XP_011524901.1:p.Leu398Val
XM_011526601.2:c.1276C>G	XP_011524903.1:p.Leu426Val