Canonical Allele Identifier: CA310042488
Gene: NLRP7 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs775840
MyVariant Identifiers: chr19:g.54961564T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54961564T>A , CM000681.2:g.54961564T>A GRCh38
NC_000019.8:g.60164744T>A NCBI36
NG_052633.1:g.13435T>A

Transcript Alleles

HGVS Amino-acid change
XM_006723075.2:c.-77+3386A>T XP_006723138.1:p.=
XM_006723076.2:c.-40+3386A>T XP_006723139.1:p.=
XM_011526596.1:c.-200+3386A>T XP_011524898.1:p.=
XM_011526597.1:c.-200+8292A>T XP_011524899.1:p.=
XM_011526598.1:c.-109+3386A>T XP_011524900.1:p.=
XM_011526599.1:c.-295+3386A>T XP_011524901.1:p.=
XM_011526600.1:c.-77+4476A>T XP_011524902.1:p.=
XM_011526601.1:c.-200+3386A>T XP_011524903.1:p.=
XR_935761.1:n.235+3386A>T
XM_006723075.3:c.-77+3386A>T XP_006723138.1:p.=
XM_006723076.3:c.-40+3386A>T XP_006723139.1:p.=
XM_011526596.2:c.-200+3386A>T XP_011524898.1:p.=
XM_011526599.2:c.-295+3386A>T XP_011524901.1:p.=
XM_011526601.2:c.-200+3386A>T XP_011524903.1:p.=
ENST00000587103.5:c.-77+4476A>T ENSP00000467234.1:p.=
ENST00000587844.1:c.-40+4476A>T ENSP00000468161.1:p.=
ENST00000588107.5:c.-18+8195T>A ENSP00000465069.1:p.=
ENST00000588619.5:c.-18+8279T>A ENSP00000466260.1:p.=
ENST00000588756.5:c.-284+4476A>T ENSP00000467123.1:p.=
ENST00000590659.1:c.-204+4476A>T ENSP00000467589.1:p.=