Canonical Allele Identifier: CA150130
Gene: NLRP7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1584
ClinVar RCV Id: RCV000001651
dbSNP Id: rs104895504
MyVariant Identifiers: chr19:g.54940930C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54940930C>T , CM000681.2:g.54940930C>T GRCh38
NC_000019.8:g.60144110C>T NCBI36
NG_008056.1:g.11576G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000592784.6:c.352+1G>A MANE Select ENSP00000468706.1:n.352+1G>A
ENST00000328092.9:c.352+1G>A ENSP00000329568.5:n.352+1G>A
ENST00000340844.6:c.352+1G>A ENSP00000339491.2:n.352+1G>A
ENST00000586379.5:c.352+1G>A ENSP00000468243.1:n.352+1G>A
ENST00000588756.5:c.352+1G>A ENSP00000467123.1:n.352+1G>A
ENST00000590030.5:c.352+1G>A ENSP00000465520.1:n.352+1G>A
ENST00000592784.5:c.352+1G>A ENSP00000468706.1:n.352+1G>A
NM_001127255.1:c.352+1G>A NP_001120727.1:n.352+1G>A
NM_139176.3:c.352+1G>A NP_631915.2:n.352+1G>A
NM_206828.3:c.352+1G>A NP_996611.2:n.352+1G>A
XM_006723075.2:c.352+1G>A XP_006723138.1:n.352+1G>A
XM_006723076.2:c.352+1G>A XP_006723139.1:n.352+1G>A
XM_011526596.1:c.436+1G>A XP_011524898.1:n.436+1G>A
XM_011526597.1:c.436+1G>A XP_011524899.1:n.436+1G>A
XM_011526598.1:c.436+1G>A XP_011524900.1:n.436+1G>A
XM_011526599.1:c.352+1G>A XP_011524901.1:n.352+1G>A
XM_011526600.1:c.352+1G>A XP_011524902.1:n.352+1G>A
XM_011526601.1:c.436+1G>A XP_011524903.1:n.436+1G>A
XR_935761.1:n.870+1G>A
XM_006723075.3:c.352+1G>A XP_006723138.1:n.352+1G>A
XM_006723076.3:c.352+1G>A XP_006723139.1:n.352+1G>A
XM_011526596.2:c.436+1G>A XP_011524898.1:n.436+1G>A
XM_011526599.2:c.352+1G>A XP_011524901.1:n.352+1G>A
XM_011526601.2:c.436+1G>A XP_011524903.1:n.436+1G>A