Canonical Allele Identifier: CA883711176

Gene: NLRP7 NLRP2

Linked Data

• dbSNP Id: rs1409622773
• gnomAD v3: 19-54961447-A-G
• gnomAD v4: 19-54961447-A-G
• MyVariant Identifiers: chr19:g.54961447A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54961447A>G , CM000681.2:g.54961447A>G	GRCh38
NC_000019.8:g.60164627A>G	NCBI36
NG_052633.1:g.13318A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000587103.5:c.-77+4593T>C (NLRP7)	ENSP00000467234.1:n.-77+4593T>C
ENST00000587844.1:c.-40+4593T>C (NLRP7)	ENSP00000468161.1:n.-40+4593T>C
ENST00000588107.5:c.-18+8078A>G (NLRP2)	ENSP00000465069.1:n.-18+8078A>G
ENST00000588619.5:c.-18+8162A>G (NLRP2)	ENSP00000466260.1:n.-18+8162A>G
ENST00000588756.5:c.-284+4593T>C (NLRP7)	ENSP00000467123.1:n.-284+4593T>C
ENST00000590659.1:c.-204+4593T>C (NLRP7)	ENSP00000467589.1:n.-204+4593T>C
XM_006723075.2:c.-77+3503T>C (NLRP7)	XP_006723138.1:n.-77+3503T>C
XM_006723076.2:c.-40+3503T>C (NLRP7)	XP_006723139.1:n.-40+3503T>C
XM_011526596.1:c.-200+3503T>C (NLRP7)	XP_011524898.1:n.-200+3503T>C
XM_011526597.1:c.-200+8409T>C (NLRP7)	XP_011524899.1:n.-200+8409T>C
XM_011526598.1:c.-109+3503T>C (NLRP7)	XP_011524900.1:n.-109+3503T>C
XM_011526599.1:c.-295+3503T>C (NLRP7)	XP_011524901.1:n.-295+3503T>C
XM_011526600.1:c.-77+4593T>C (NLRP7)	XP_011524902.1:n.-77+4593T>C
XM_011526601.1:c.-200+3503T>C (NLRP7)	XP_011524903.1:n.-200+3503T>C
XR_935761.1:n.235+3503T>C (NLRP7)
XM_006723075.3:c.-77+3503T>C (NLRP7)	XP_006723138.1:n.-77+3503T>C
XM_006723076.3:c.-40+3503T>C (NLRP7)	XP_006723139.1:n.-40+3503T>C
XM_011526596.2:c.-200+3503T>C (NLRP7)	XP_011524898.1:n.-200+3503T>C
XM_011526599.2:c.-295+3503T>C (NLRP7)	XP_011524901.1:n.-295+3503T>C
XM_011526601.2:c.-200+3503T>C (NLRP7)	XP_011524903.1:n.-200+3503T>C