Linked Data
ClinVar Variation Id:
331904
ClinVar RCV Id:
RCV000269917
RCV000271243
RCV000322694
RCV000328465
RCV000362135
RCV000368073
RCV000377051
dbSNP Id:
rs763459885
gnomAD v3:
2-166195927-AG-A
gnomAD v4:
2-166195927-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166195928del , CM000664.2:g.166195928del | GRCh38 |
| NC_000002.11:g.167052438del , CM000664.1:g.167052438del | GRCh37 |
| NC_000002.10:g.166760684del | NCBI36 |
| NG_012798.1:g.185060del , LRG_369:g.185060del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303354.11:c.*2744del (SCN9A) | ENSP00000304748.7:n.*2744del | |
| ENST00000642356.2:c.*2744del (SCN9A) MANE Select | ENSP00000495601.1:n.*2744del | |
| ENST00000303354.10:c.*2744del (SCN9A) | ENSP00000304748.7:n.*2744del | |
| ENST00000409672.5:c.*2744del (SCN9A) | ENSP00000386306.1:n.*2744del | |
| NM_002977.3:c.*2744del , LRG_369t1:c.*2744del (SCN9A) | NP_002968.1:n.*2744del | |
| NR_110260.1:n.432-3711del (SCN1A-AS1) | ||
| NM_001365536.1:c.*2744del (SCN9A) MANE Select | NP_001352465.1:n.*2744del |