Canonical Allele Identifier: CA997223338

Gene: NLRP7 NLRP2

Linked Data

• gnomAD v3: 19-54961482-C-A
• gnomAD v4: 19-54961482-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54961482C>A , CM000681.2:g.54961482C>A	GRCh38
NC_000019.8:g.60164662C>A	NCBI36
NG_052633.1:g.13353C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000587103.5:c.-77+4558G>T (NLRP7)	ENSP00000467234.1:n.-77+4558G>T
ENST00000587844.1:c.-40+4558G>T (NLRP7)	ENSP00000468161.1:n.-40+4558G>T
ENST00000588107.5:c.-18+8113C>A (NLRP2)	ENSP00000465069.1:n.-18+8113C>A
ENST00000588619.5:c.-18+8197C>A (NLRP2)	ENSP00000466260.1:n.-18+8197C>A
ENST00000588756.5:c.-284+4558G>T (NLRP7)	ENSP00000467123.1:n.-284+4558G>T
ENST00000590659.1:c.-204+4558G>T (NLRP7)	ENSP00000467589.1:n.-204+4558G>T
XM_006723075.2:c.-77+3468G>T (NLRP7)	XP_006723138.1:n.-77+3468G>T
XM_006723076.2:c.-40+3468G>T (NLRP7)	XP_006723139.1:n.-40+3468G>T
XM_011526596.1:c.-200+3468G>T (NLRP7)	XP_011524898.1:n.-200+3468G>T
XM_011526597.1:c.-200+8374G>T (NLRP7)	XP_011524899.1:n.-200+8374G>T
XM_011526598.1:c.-109+3468G>T (NLRP7)	XP_011524900.1:n.-109+3468G>T
XM_011526599.1:c.-295+3468G>T (NLRP7)	XP_011524901.1:n.-295+3468G>T
XM_011526600.1:c.-77+4558G>T (NLRP7)	XP_011524902.1:n.-77+4558G>T
XM_011526601.1:c.-200+3468G>T (NLRP7)	XP_011524903.1:n.-200+3468G>T
XR_935761.1:n.235+3468G>T (NLRP7)
XM_006723075.3:c.-77+3468G>T (NLRP7)	XP_006723138.1:n.-77+3468G>T
XM_006723076.3:c.-40+3468G>T (NLRP7)	XP_006723139.1:n.-40+3468G>T
XM_011526596.2:c.-200+3468G>T (NLRP7)	XP_011524898.1:n.-200+3468G>T
XM_011526599.2:c.-295+3468G>T (NLRP7)	XP_011524901.1:n.-295+3468G>T
XM_011526601.2:c.-200+3468G>T (NLRP7)	XP_011524903.1:n.-200+3468G>T