gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003224 (AFR)
Genomes Max Group AF
0.0003188 (AFR)
Exomes Max Group AF
0.00023146 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132327296C>T , CM000667.2:g.132327296C>T | GRCh38 |
| NC_000005.9:g.131662989C>T , CM000667.1:g.131662989C>T | GRCh37 |
| NC_000005.8:g.131690888C>T | NCBI36 |
| NG_012129.1:g.37845C>T | |
| NG_012129.2:g.37845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.844C>T (SLC22A4) MANE Select | ENSP00000200652.3:p.Arg282Ter | |
| ENST00000200652.3:c.844C>T (SLC22A4) | ENSP00000200652.3:p.Arg282Ter | |
| ENST00000425923.1:n.374C>T (SLC22A4) | ||
| NM_003059.2:c.844C>T (SLC22A4) | NP_003050.2:p.Arg282Ter | |
| NR_110997.1:n.824+4893G>A (MIR3936HG) | ||
| XM_006714675.2:c.316C>T (SLC22A4) | XP_006714738.1:p.Arg106Ter | |
| XM_011543589.1:c.568C>T (SLC22A4) | XP_011541891.1:p.Arg190Ter | |
| XM_006714675.4:c.316C>T (SLC22A4) | XP_006714738.1:p.Arg106Ter | |
| XM_011543589.2:c.568C>T (SLC22A4) | XP_011541891.1:p.Arg190Ter | |
| XM_017009776.1:c.316C>T (SLC22A4) | XP_016865265.1:p.Arg106Ter | |
| NM_003059.3:c.844C>T (SLC22A4) MANE Select | NP_003050.2:p.Arg282Ter |