Canonical Allele Identifier: CA310018190
Gene: NLRP7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2460126
ClinVar RCV Id: RCV003189581
dbSNP Id: rs765342958
MyVariant Identifiers: chr19:g.54939564C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54939564C>G , CM000681.2:g.54939564C>G GRCh38
NC_000019.8:g.60142744C>G NCBI36
NG_008056.1:g.12942G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592784.6:c.1255G>C MANE Select ENSP00000468706.1:p.Ala419Pro
ENST00000328092.9:c.1255G>C ENSP00000329568.5:p.Ala419Pro
ENST00000340844.6:c.1255G>C ENSP00000339491.2:p.Ala419Pro
ENST00000586379.5:c.1255G>C ENSP00000468243.1:p.Ala419Pro
ENST00000588756.5:c.1255G>C ENSP00000467123.1:p.Ala419Pro
ENST00000590030.5:c.1255G>C ENSP00000465520.1:p.Ala419Pro
ENST00000592784.5:c.1255G>C ENSP00000468706.1:p.Ala419Pro
NM_001127255.1:c.1255G>C NP_001120727.1:p.Ala419Pro
NM_139176.3:c.1255G>C NP_631915.2:p.Ala419Pro
NM_206828.3:c.1255G>C NP_996611.2:p.Ala419Pro
XM_006723075.2:c.1255G>C XP_006723138.1:p.Ala419Pro
XM_006723076.2:c.1255G>C XP_006723139.1:p.Ala419Pro
XM_011526596.1:c.1339G>C XP_011524898.1:p.Ala447Pro
XM_011526597.1:c.1339G>C XP_011524899.1:p.Ala447Pro
XM_011526598.1:c.1339G>C XP_011524900.1:p.Ala447Pro
XM_011526599.1:c.1255G>C XP_011524901.1:p.Ala419Pro
XM_011526600.1:c.1255G>C XP_011524902.1:p.Ala419Pro
XM_011526601.1:c.1339G>C XP_011524903.1:p.Ala447Pro
XR_935761.1:n.1773G>C
XM_006723075.3:c.1255G>C XP_006723138.1:p.Ala419Pro
XM_006723076.3:c.1255G>C XP_006723139.1:p.Ala419Pro
XM_011526596.2:c.1339G>C XP_011524898.1:p.Ala447Pro
XM_011526599.2:c.1255G>C XP_011524901.1:p.Ala419Pro
XM_011526601.2:c.1339G>C XP_011524903.1:p.Ala447Pro