Canonical Allele Identifier: CA2343162501

Linked Data

dbSNP Id: rs2070040684

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54961484G>A , CM000681.2:g.54961484G>A GRCh38
NC_000019.8:g.60164664G>A NCBI36
NG_052633.1:g.13355G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000587103.5:c.-77+4556C>T (NLRP7) ENSP00000467234.1:n.-77+4556C>T
ENST00000587844.1:c.-40+4556C>T (NLRP7) ENSP00000468161.1:n.-40+4556C>T
ENST00000588107.5:c.-18+8115G>A (NLRP2) ENSP00000465069.1:n.-18+8115G>A
ENST00000588619.5:c.-18+8199G>A (NLRP2) ENSP00000466260.1:n.-18+8199G>A
ENST00000588756.5:c.-284+4556C>T (NLRP7) ENSP00000467123.1:n.-284+4556C>T
ENST00000590659.1:c.-204+4556C>T (NLRP7) ENSP00000467589.1:n.-204+4556C>T
XM_006723075.2:c.-77+3466C>T (NLRP7) XP_006723138.1:n.-77+3466C>T
XM_006723076.2:c.-40+3466C>T (NLRP7) XP_006723139.1:n.-40+3466C>T
XM_011526596.1:c.-200+3466C>T (NLRP7) XP_011524898.1:n.-200+3466C>T
XM_011526597.1:c.-200+8372C>T (NLRP7) XP_011524899.1:n.-200+8372C>T
XM_011526598.1:c.-109+3466C>T (NLRP7) XP_011524900.1:n.-109+3466C>T
XM_011526599.1:c.-295+3466C>T (NLRP7) XP_011524901.1:n.-295+3466C>T
XM_011526600.1:c.-77+4556C>T (NLRP7) XP_011524902.1:n.-77+4556C>T
XM_011526601.1:c.-200+3466C>T (NLRP7) XP_011524903.1:n.-200+3466C>T
XR_935761.1:n.235+3466C>T (NLRP7)
XM_006723075.3:c.-77+3466C>T (NLRP7) XP_006723138.1:n.-77+3466C>T
XM_006723076.3:c.-40+3466C>T (NLRP7) XP_006723139.1:n.-40+3466C>T
XM_011526596.2:c.-200+3466C>T (NLRP7) XP_011524898.1:n.-200+3466C>T
XM_011526599.2:c.-295+3466C>T (NLRP7) XP_011524901.1:n.-295+3466C>T
XM_011526601.2:c.-200+3466C>T (NLRP7) XP_011524903.1:n.-200+3466C>T