COSMIC:
COSN16067660 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40533067 (AFR)
Genomes Max Group AF
0.40745751 (NFE)
Exomes Max Group AF
0.40386763 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60230193C>T , CM000673.2:g.60230193C>T | GRCh38 |
| NC_000011.9:g.59997666C>T , CM000673.1:g.59997666C>T | GRCh37 |
| NC_000011.8:g.59754242C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649552.2:c.59+44022C>T (MS4A4A) | ENSP00000497952.2:n.59+44022C>T | |
| ENST00000651255.1:c.-16-122G>A (MS4A4E) MANE Select | ENSP00000499123.1:n.-16-122G>A | |
| ENST00000679385.1:c.-25+44022C>T (MS4A4A) | ENSP00000506313.1:n.-25+44022C>T | |
| ENST00000679553.1:c.59+44022C>T (MS4A4A) | ENSP00000505712.1:n.59+44022C>T | |
| ENST00000680301.1:c.59+44022C>T (MS4A4A) | ENSP00000506147.1:n.59+44022C>T | |
| ENST00000680537.1:c.-17+577C>T (MS4A4A) | ENSP00000506179.1:n.-17+577C>T | |
| ENST00000680560.1:c.59+44022C>T (MS4A4A) | ENSP00000505056.1:n.59+44022C>T | |
| ENST00000680757.1:c.-104-9873C>T (MS4A4A) | ENSP00000505293.1:n.-104-9873C>T | |
| ENST00000680935.1:c.-104-9873C>T (MS4A4A) | ENSP00000505050.1:n.-104-9873C>T | |
| ENST00000681288.1:c.59+44022C>T (MS4A4A) | ENSP00000505714.1:n.59+44022C>T | |
| ENST00000681406.1:c.59+44022C>T (MS4A4A) | ENSP00000505926.1:n.59+44022C>T | |
| ENST00000532442.5:c.-16-122G>A (MS4A4E) | ENSP00000435345.1:n.-16-122G>A | |
| XM_011545416.1:c.-16-122G>A (MS4A4E) | XP_011543718.1:n.-16-122G>A | |
| XM_011545417.1:c.-89-122G>A (MS4A4E) | XP_011543719.1:n.-89-122G>A | |
| XM_011545418.1:c.-16-122G>A (MS4A4E) | XP_011543720.1:n.-16-122G>A | |
| XM_011545419.1:c.-16-122G>A (MS4A4E) | XP_011543721.1:n.-16-122G>A | |
| XR_950143.1:n.158-122G>A (MS4A4E) | ||
| XR_950144.1:n.158-122G>A (MS4A4E) | ||
| NM_001351235.1:c.-89-122G>A (MS4A4E) | NP_001338164.1:n.-89-122G>A | |
| XM_011545416.2:c.-16-122G>A (MS4A4E) | XP_011543718.1:n.-16-122G>A | |
| XM_011545418.2:c.-16-122G>A (MS4A4E) | XP_011543720.1:n.-16-122G>A | |
| XM_011545419.2:c.-16-122G>A (MS4A4E) | XP_011543721.1:n.-16-122G>A | |
| XM_017018641.1:c.-16-122G>A (MS4A4E) | XP_016874130.1:n.-16-122G>A | |
| XR_950143.2:n.168-122G>A (MS4A4E) | ||
| XR_950144.2:n.168-122G>A (MS4A4E) | ||
| NM_001351235.2:c.-89-122G>A (MS4A4E) | NP_001338164.1:n.-89-122G>A | |
| NM_001393391.1:c.-16-122G>A (MS4A4E) MANE Select | NP_001380320.1:n.-16-122G>A |