Linked Data
dbSNP Id:
rs11890028
gnomAD v2:
2-166943277-T-A
gnomAD v3:
2-166086767-T-A
gnomAD v4:
2-166086767-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166086767T>A , CM000664.2:g.166086767T>A | GRCh38 |
| NC_000002.11:g.166943277T>A , CM000664.1:g.166943277T>A | GRCh37 |
| NC_000002.10:g.166651523T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303395.9:c.-141-8966A>T (SCN1A) | ENSP00000303540.4:n.-141-8966A>T | |
| ENST00000635750.1:c.-49-13097A>T (SCN1A) | ENSP00000490799.1:n.-49-13097A>T | |
| ENST00000635776.1:c.-49-13097A>T (SCN1A) | ENSP00000490692.1:n.-49-13097A>T | |
| ENST00000636194.1:c.-141-8966A>T (SCN1A) | ENSP00000490288.1:n.-141-8966A>T | |
| ENST00000636759.1:c.-187-8920A>T (SCN1A) | ENSP00000490895.1:n.-187-8920A>T | |
| ENST00000637285.2:c.-49-13097A>T (SCN1A) | ENSP00000490612.1:n.-49-13097A>T | |
| ENST00000637968.1:n.112-8966A>T (SCN1A) | ||
| ENST00000637988.1:c.-141-8966A>T (SCN1A) | ENSP00000490780.1:n.-141-8966A>T | |
| ENST00000641575.1:c.-187-8920A>T (SCN1A) | ENSP00000492917.1:n.-187-8920A>T | |
| ENST00000641603.1:c.-49-13097A>T (SCN1A) | ENSP00000492945.1:n.-49-13097A>T | |
| ENST00000641996.1:c.-49-13097A>T (SCN1A) | ENSP00000493054.1:n.-49-13097A>T | |
| ENST00000642141.1:n.253-8966A>T (SCN1A) | ||
| ENST00000671940.1:c.-141-8966A>T (SCN1A) | ENSP00000500336.1:n.-141-8966A>T | |
| ENST00000673490.1:n.246-13097A>T (SCN1A) | ||
| ENST00000674923.1:c.-141-8966A>T (SCN1A) MANE Select | ENSP00000501589.1:n.-141-8966A>T | |
| ENST00000303395.8:c.-141-8966A>T (SCN1A) | ENSP00000303540.4:n.-141-8966A>T | |
| ENST00000507401.2:n.251-8966A>T (SCN1A) | ||
| NM_001202435.1:c.-141-8966A>T (SCN1A) | NP_001189364.1:n.-141-8966A>T | |
| NR_110260.1:n.148+5089T>A (SCN1A-AS1) | ||
| XM_011511599.1:c.-141-8966A>T (SCN1A) | XP_011509901.1:n.-141-8966A>T | |
| XM_011511600.1:c.-49-13097A>T (SCN1A) | XP_011509902.1:n.-49-13097A>T | |
| XM_011511601.1:c.-49-13097A>T (SCN1A) | XP_011509903.1:n.-49-13097A>T | |
| XM_011511602.1:c.-49-13097A>T (SCN1A) | XP_011509904.1:n.-49-13097A>T | |
| NM_001165963.2:c.-141-8966A>T (SCN1A) | NP_001159435.1:n.-141-8966A>T | |
| NM_001165964.2:c.-141-8966A>T (SCN1A) | NP_001159436.1:n.-141-8966A>T | |
| NM_001202435.2:c.-141-8966A>T (SCN1A) | NP_001189364.1:n.-141-8966A>T | |
| NM_001353948.1:c.-49-13097A>T (SCN1A) | NP_001340877.1:n.-49-13097A>T | |
| NM_001353949.1:c.-49-13097A>T (SCN1A) | NP_001340878.1:n.-49-13097A>T | |
| NM_001353950.1:c.-141-8966A>T (SCN1A) | NP_001340879.1:n.-141-8966A>T | |
| NM_001353951.1:c.-49-13097A>T (SCN1A) | NP_001340880.1:n.-49-13097A>T | |
| NM_001353952.1:c.-141-8966A>T (SCN1A) | NP_001340881.1:n.-141-8966A>T | |
| NM_001353954.1:c.-141-8966A>T (SCN1A) | NP_001340883.1:n.-141-8966A>T | |
| NM_001353955.1:c.-49-13097A>T (SCN1A) | NP_001340884.1:n.-49-13097A>T | |
| NM_001353957.1:c.-49-13097A>T (SCN1A) | NP_001340886.1:n.-49-13097A>T | |
| NM_001353958.1:c.-141-8966A>T (SCN1A) | NP_001340887.1:n.-141-8966A>T | |
| NM_001353960.1:c.-141-8966A>T (SCN1A) | NP_001340889.1:n.-141-8966A>T | |
| NM_001353961.1:c.-2566-8966A>T (SCN1A) | NP_001340890.1:n.-2566-8966A>T | |
| NM_006920.5:c.-141-8966A>T (SCN1A) | NP_008851.3:n.-141-8966A>T | |
| NR_148667.1:n.357-13097A>T (SCN1A) | ||
| XR_001738883.1:n.246-8966A>T (SCN1A) | ||
| XR_001738884.1:n.251-8966A>T (SCN1A) | ||
| NM_001165963.3:c.-141-8966A>T (SCN1A) | NP_001159435.1:n.-141-8966A>T | |
| NM_001165964.3:c.-141-8966A>T (SCN1A) | NP_001159436.1:n.-141-8966A>T | |
| NM_001202435.3:c.-141-8966A>T (SCN1A) | NP_001189364.1:n.-141-8966A>T | |
| NM_001353948.2:c.-49-13097A>T (SCN1A) | NP_001340877.1:n.-49-13097A>T | |
| NM_001353949.2:c.-49-13097A>T (SCN1A) | NP_001340878.1:n.-49-13097A>T | |
| NM_001353950.2:c.-141-8966A>T (SCN1A) | NP_001340879.1:n.-141-8966A>T | |
| NM_001353951.2:c.-49-13097A>T (SCN1A) | NP_001340880.1:n.-49-13097A>T | |
| NM_001353952.2:c.-141-8966A>T (SCN1A) | NP_001340881.1:n.-141-8966A>T | |
| NM_001353954.2:c.-141-8966A>T (SCN1A) | NP_001340883.1:n.-141-8966A>T | |
| NM_001353955.2:c.-49-13097A>T (SCN1A) | NP_001340884.1:n.-49-13097A>T | |
| NM_001353957.2:c.-49-13097A>T (SCN1A) | NP_001340886.1:n.-49-13097A>T | |
| NM_001353958.2:c.-141-8966A>T (SCN1A) | NP_001340887.1:n.-141-8966A>T | |
| NM_001353960.2:c.-141-8966A>T (SCN1A) | NP_001340889.1:n.-141-8966A>T | |
| NM_001353961.2:c.-2566-8966A>T (SCN1A) | NP_001340890.1:n.-2566-8966A>T | |
| NM_006920.6:c.-141-8966A>T (SCN1A) | NP_008851.3:n.-141-8966A>T | |
| NR_148667.2:n.338-13097A>T (SCN1A) | ||
| NM_001165963.4:c.-141-8966A>T (SCN1A) MANE Select | NP_001159435.1:n.-141-8966A>T |