Linked Data
ClinVar Variation Id:
97764
ClinVar RCV Id:
RCV000084017
dbSNP Id:
rs269952
gnomAD v3:
19-54930912-A-C
gnomAD v4:
19-54930912-A-C
MyVariant Identifiers:
chr19:g.54930912A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54930912A>C , CM000681.2:g.54930912A>C | GRCh38 |
| NC_000019.8:g.60134092A>C | NCBI36 |
| NG_008056.1:g.21594T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592784.6:c.2643-246T>G (NLRP7) MANE Select | ENSP00000468706.1:n.2643-246T>G | |
| ENST00000328092.9:c.2559-246T>G (NLRP7) | ENSP00000329568.5:n.2559-246T>G | |
| ENST00000340844.6:c.2643-246T>G (NLRP7) | ENSP00000339491.2:n.2643-246T>G | |
| ENST00000586379.5:c.2643-246T>G (NLRP7) | ENSP00000468243.1:n.2643-246T>G | |
| ENST00000588756.5:c.2643-246T>G (NLRP7) | ENSP00000467123.1:n.2643-246T>G | |
| ENST00000590030.5:c.2643-246T>G (NLRP7) | ENSP00000465520.1:n.2643-246T>G | |
| ENST00000592784.5:c.2643-246T>G (NLRP7) | ENSP00000468706.1:n.2643-246T>G | |
| NM_001127255.1:c.2643-246T>G (NLRP7) | NP_001120727.1:n.2643-246T>G | |
| NM_139176.3:c.2559-246T>G (NLRP7) | NP_631915.2:n.2559-246T>G | |
| NM_206828.3:c.2643-246T>G (NLRP7) | NP_996611.2:n.2643-246T>G | |
| XM_006723075.2:c.2643-246T>G (NLRP7) | XP_006723138.1:n.2643-246T>G | |
| XM_006723076.2:c.2643-246T>G (NLRP7) | XP_006723139.1:n.2643-246T>G | |
| XM_011526596.1:c.2727-246T>G (NLRP7) | XP_011524898.1:n.2727-246T>G | |
| XM_011526597.1:c.2727-246T>G (NLRP7) | XP_011524899.1:n.2727-246T>G | |
| XM_011526598.1:c.2727-246T>G (NLRP7) | XP_011524900.1:n.2727-246T>G | |
| XM_011526599.1:c.2643-246T>G (NLRP7) | XP_011524901.1:n.2643-246T>G | |
| XM_011526600.1:c.2643-246T>G (NLRP7) | XP_011524902.1:n.2643-246T>G | |
| XM_011526601.1:c.2727-246T>G (NLRP7) | XP_011524903.1:n.2727-246T>G | |
| XM_011527530.1:c.683-7224A>C (NCR1) | XP_011525832.1:n.683-7224A>C | |
| XR_935761.1:n.3161-246T>G (NLRP7) | ||
| XM_006723075.3:c.2643-246T>G (NLRP7) | XP_006723138.1:n.2643-246T>G | |
| XM_006723076.3:c.2643-246T>G (NLRP7) | XP_006723139.1:n.2643-246T>G | |
| XM_011526596.2:c.2727-246T>G (NLRP7) | XP_011524898.1:n.2727-246T>G | |
| XM_011526599.2:c.2643-246T>G (NLRP7) | XP_011524901.1:n.2643-246T>G | |
| XM_011526601.2:c.2727-246T>G (NLRP7) | XP_011524903.1:n.2727-246T>G | |
| XM_011527530.3:c.683-7224A>C (NCR1) | XP_011525832.1:n.683-7224A>C |