gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68014778 (MID)
Genomes Max Group AF
0.6717699 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.40168938C>T , CM000664.2:g.40168938C>T | GRCh38 |
| NC_000002.11:g.40396078C>T , CM000664.1:g.40396078C>T | GRCh37 |
| NC_000002.10:g.40249582C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332839.9:c.2038+1343G>A (SLC8A1) MANE Select | ENSP00000332931.4:n.2038+1343G>A | |
| ENST00000406785.7:c.1931-3954G>A (SLC8A1) | ENSP00000383886.1:n.1931-3954G>A | |
| ENST00000417271.2:c.1955-3954G>A (SLC8A1) | ENSP00000412560.2:n.1955-3954G>A | |
| ENST00000705281.1:c.2002+1343G>A (SLC8A1) | ENSP00000516109.1:n.2002+1343G>A | |
| ENST00000705282.1:c.1952-3954G>A (SLC8A1) | ENSP00000516110.1:n.1952-3954G>A | |
| ENST00000705603.1:c.2002+1343G>A (SLC8A1) | ENSP00000516141.1:n.2002+1343G>A | |
| ENST00000705604.1:c.1999+1343G>A (SLC8A1) | ENSP00000516142.1:n.1999+1343G>A | |
| ENST00000705605.1:c.1934-3954G>A (SLC8A1) | ENSP00000516143.1:n.1934-3954G>A | |
| ENST00000332839.8:c.2038+1343G>A (SLC8A1) | ENSP00000332931.4:n.2038+1343G>A | |
| ENST00000402441.5:c.1931-3954G>A (SLC8A1) | ENSP00000385188.1:n.1931-3954G>A | |
| ENST00000403092.5:c.2038+1343G>A (SLC8A1) | ENSP00000384763.1:n.2038+1343G>A | |
| ENST00000405269.5:c.1931-3954G>A (SLC8A1) | ENSP00000385535.1:n.1931-3954G>A | |
| ENST00000405901.7:c.2023+1343G>A (SLC8A1) | ENSP00000385678.3:n.2023+1343G>A | |
| ENST00000406391.2:c.1931-3954G>A (SLC8A1) | ENSP00000385811.2:n.1931-3954G>A | |
| ENST00000406785.6:c.1931-3954G>A (SLC8A1) | ENSP00000383886.1:n.1931-3954G>A | |
| ENST00000407929.6:c.2029-3954G>A (SLC8A1) | ENSP00000386116.2:n.2029-3954G>A | |
| ENST00000408028.6:c.2014+1343G>A (SLC8A1) | ENSP00000384908.2:n.2014+1343G>A | |
| NM_001112800.1:c.2023+1343G>A (SLC8A1) | NP_001106271.1:n.2023+1343G>A | |
| NM_001112801.1:c.1999+1343G>A (SLC8A1) | NP_001106272.1:n.1999+1343G>A | |
| NM_001112802.1:c.1931-3954G>A (SLC8A1) | NP_001106273.1:n.1931-3954G>A | |
| NM_001252624.1:c.2014+1343G>A (SLC8A1) | NP_001239553.1:n.2014+1343G>A | |
| NM_021097.2:c.2038+1343G>A (SLC8A1) | NP_066920.1:n.2038+1343G>A | |
| NR_038441.1:n.121+63976C>T (SLC8A1-AS1) | ||
| XM_005264514.2:c.1931-3954G>A (SLC8A1) | XP_005264571.1:n.1931-3954G>A | |
| XM_006712081.1:c.2038+1343G>A (SLC8A1) | XP_006712144.1:n.2038+1343G>A | |
| XM_006712082.2:c.2038+1343G>A (SLC8A1) | XP_006712145.1:n.2038+1343G>A | |
| XM_006712083.2:c.2038+1343G>A (SLC8A1) | XP_006712146.1:n.2038+1343G>A | |
| XM_006712084.2:c.2038+1343G>A (SLC8A1) | XP_006712147.1:n.2038+1343G>A | |
| XM_006712085.2:c.2038+1343G>A (SLC8A1) | XP_006712148.1:n.2038+1343G>A | |
| XM_011533048.1:c.2035+1343G>A (SLC8A1) | XP_011531350.1:n.2035+1343G>A | |
| XM_011533049.1:c.2020+1343G>A (SLC8A1) | XP_011531351.1:n.2020+1343G>A | |
| XM_011533050.1:c.2017+1343G>A (SLC8A1) | XP_011531352.1:n.2017+1343G>A | |
| XM_011533051.1:c.2002+1343G>A (SLC8A1) | XP_011531353.1:n.2002+1343G>A | |
| XM_011533052.1:c.1955-3954G>A (SLC8A1) | XP_011531354.1:n.1955-3954G>A | |
| XM_011533053.1:c.1952-3954G>A (SLC8A1) | XP_011531355.1:n.1952-3954G>A | |
| XM_011533054.1:c.2038+1343G>A (SLC8A1) | XP_011531356.1:n.2038+1343G>A | |
| XM_011533055.1:c.2038+1343G>A (SLC8A1) | XP_011531357.1:n.2038+1343G>A | |
| XM_011533056.1:c.2038+1343G>A (SLC8A1) | XP_011531358.1:n.2038+1343G>A | |
| XM_011533057.1:c.1934-3954G>A (SLC8A1) | XP_011531359.1:n.1934-3954G>A | |
| XM_011533058.1:c.*34-3954G>A (SLC8A1) | XP_011531360.1:n.*34-3954G>A | |
| XM_011533059.1:c.343+1343G>A (SLC8A1) | XP_011531361.1:n.343+1343G>A | |
| NM_001112801.2:c.1999+1343G>A (SLC8A1) | NP_001106272.1:n.1999+1343G>A | |
| NM_001351483.1:c.1955-3954G>A (SLC8A1) | NP_001338412.1:n.1955-3954G>A | |
| NM_001351484.1:c.1955-3954G>A (SLC8A1) | NP_001338413.1:n.1955-3954G>A | |
| NM_001351485.1:c.1955-3954G>A (SLC8A1) | NP_001338414.1:n.1955-3954G>A | |
| NM_001351486.1:c.1952-3954G>A (SLC8A1) | NP_001338415.1:n.1952-3954G>A | |
| NM_001351487.1:c.2002+1343G>A (SLC8A1) | NP_001338416.1:n.2002+1343G>A | |
| NM_001351488.1:c.2002+1343G>A (SLC8A1) | NP_001338417.1:n.2002+1343G>A | |
| NM_001351489.1:c.2002+1343G>A (SLC8A1) | NP_001338418.1:n.2002+1343G>A | |
| NM_001351490.1:c.1934-3954G>A (SLC8A1) | NP_001338419.1:n.1934-3954G>A | |
| NM_001351491.1:c.1934-3954G>A (SLC8A1) | NP_001338420.1:n.1934-3954G>A | |
| NM_001351492.1:c.1934-3954G>A (SLC8A1) | NP_001338421.1:n.1934-3954G>A | |
| NM_001351493.1:c.2014+1343G>A (SLC8A1) | NP_001338422.1:n.2014+1343G>A | |
| NM_001351494.1:c.1931-3954G>A (SLC8A1) | NP_001338423.1:n.1931-3954G>A | |
| XM_006712081.3:c.2038+1343G>A (SLC8A1) | XP_006712144.1:n.2038+1343G>A | |
| XM_006712082.4:c.2038+1343G>A (SLC8A1) | XP_006712145.1:n.2038+1343G>A | |
| XM_006712083.4:c.2038+1343G>A (SLC8A1) | XP_006712146.1:n.2038+1343G>A | |
| XM_006712084.4:c.2038+1343G>A (SLC8A1) | XP_006712147.1:n.2038+1343G>A | |
| XM_006712085.4:c.2038+1343G>A (SLC8A1) | XP_006712148.1:n.2038+1343G>A | |
| XM_011533050.2:c.2017+1343G>A (SLC8A1) | XP_011531352.1:n.2017+1343G>A | |
| XM_011533054.3:c.2038+1343G>A (SLC8A1) | XP_011531356.1:n.2038+1343G>A | |
| XM_011533055.3:c.2038+1343G>A (SLC8A1) | XP_011531357.1:n.2038+1343G>A | |
| XM_011533056.2:c.2038+1343G>A (SLC8A1) | XP_011531358.1:n.2038+1343G>A | |
| XM_011533057.3:c.2024-3954G>A (SLC8A1) | XP_011531359.2:n.2024-3954G>A | |
| XM_011533058.2:c.*34-3954G>A (SLC8A1) | XP_011531360.1:n.*34-3954G>A | |
| XM_017004745.2:c.2128+1343G>A (SLC8A1) | XP_016860234.1:n.2128+1343G>A | |
| XM_017004746.2:c.2038+1343G>A (SLC8A1) | XP_016860235.1:n.2038+1343G>A | |
| XM_017004747.2:c.2092+1343G>A (SLC8A1) | XP_016860236.1:n.2092+1343G>A | |
| XM_017004748.2:c.2038+1343G>A (SLC8A1) | XP_016860237.1:n.2038+1343G>A | |
| XM_017004749.2:c.2038+1343G>A (SLC8A1) | XP_016860238.1:n.2038+1343G>A | |
| XM_017004750.2:c.2038+1343G>A (SLC8A1) | XP_016860239.1:n.2038+1343G>A | |
| XM_017004751.2:c.2038+1343G>A (SLC8A1) | XP_016860240.1:n.2038+1343G>A | |
| XM_017004752.2:c.2038+1343G>A (SLC8A1) | XP_016860241.1:n.2038+1343G>A | |
| XM_017004753.2:c.2038+1343G>A (SLC8A1) | XP_016860242.1:n.2038+1343G>A | |
| XM_017004755.2:c.2002+1343G>A (SLC8A1) | XP_016860244.1:n.2002+1343G>A | |
| NM_001112800.2:c.2023+1343G>A (SLC8A1) | NP_001106271.1:n.2023+1343G>A | |
| NM_001112801.3:c.1999+1343G>A (SLC8A1) | NP_001106272.1:n.1999+1343G>A | |
| NM_001112802.2:c.1931-3954G>A (SLC8A1) | NP_001106273.1:n.1931-3954G>A | |
| NM_001252624.2:c.2014+1343G>A (SLC8A1) | NP_001239553.1:n.2014+1343G>A | |
| NM_001351483.2:c.1955-3954G>A (SLC8A1) | NP_001338412.1:n.1955-3954G>A | |
| NM_001351484.2:c.1955-3954G>A (SLC8A1) | NP_001338413.1:n.1955-3954G>A | |
| NM_001351485.2:c.1955-3954G>A (SLC8A1) | NP_001338414.1:n.1955-3954G>A | |
| NM_001351486.2:c.1952-3954G>A (SLC8A1) | NP_001338415.1:n.1952-3954G>A | |
| NM_001351487.2:c.2002+1343G>A (SLC8A1) | NP_001338416.1:n.2002+1343G>A | |
| NM_001351488.2:c.2002+1343G>A (SLC8A1) | NP_001338417.1:n.2002+1343G>A | |
| NM_001351489.2:c.2002+1343G>A (SLC8A1) | NP_001338418.1:n.2002+1343G>A | |
| NM_001351490.2:c.1934-3954G>A (SLC8A1) | NP_001338419.1:n.1934-3954G>A | |
| NM_001351491.2:c.1934-3954G>A (SLC8A1) | NP_001338420.1:n.1934-3954G>A | |
| NM_001351492.2:c.1934-3954G>A (SLC8A1) | NP_001338421.1:n.1934-3954G>A | |
| NM_001351493.2:c.2014+1343G>A (SLC8A1) | NP_001338422.1:n.2014+1343G>A | |
| NM_001351494.2:c.1931-3954G>A (SLC8A1) | NP_001338423.1:n.1931-3954G>A | |
| NM_001372263.1:c.2038+1343G>A (SLC8A1) | NP_001359192.1:n.2038+1343G>A | |
| NM_021097.4:c.2038+1343G>A (SLC8A1) | NP_066920.1:n.2038+1343G>A | |
| NM_001112800.3:c.2023+1343G>A (SLC8A1) | NP_001106271.1:n.2023+1343G>A | |
| NM_001372263.2:c.2038+1343G>A (SLC8A1) | NP_001359192.1:n.2038+1343G>A | |
| NM_001394103.1:c.2038+1343G>A (SLC8A1) | NP_001381032.1:n.2038+1343G>A | |
| NM_001394104.1:c.2023+1343G>A (SLC8A1) | NP_001381033.1:n.2023+1343G>A | |
| NM_001394105.1:c.2002+1343G>A (SLC8A1) | NP_001381034.1:n.2002+1343G>A | |
| NM_001394106.1:c.1931-3954G>A (SLC8A1) | NP_001381035.1:n.1931-3954G>A | |
| NM_001394107.1:c.1931-3954G>A (SLC8A1) | NP_001381036.1:n.1931-3954G>A | |
| NM_021097.5:c.2038+1343G>A (SLC8A1) MANE Select | NP_066920.1:n.2038+1343G>A | |
| NM_001112800.4:c.2023+1343G>A (SLC8A1) | NP_001106271.1:n.2023+1343G>A |