Revel Score:
ENST00000396750
0.199
ENST00000405314
0.199
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00355538 (MID)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00375073 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44705631C>T , CM000681.2:g.44705631C>T | GRCh38 |
| NC_000019.9:g.45208901C>T , CM000681.1:g.45208901C>T | GRCh37 |
| NC_000019.8:g.49900741C>T | NCBI36 |
| NG_032692.2:g.11481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587331.7:c.703C>T (CEACAM16) MANE Select | ENSP00000466561.1:p.Arg235Cys | |
| ENST00000405314.2:c.703C>T (CEACAM16) | ENSP00000385576.1:p.Arg235Cys | |
| ENST00000587331.5:c.703C>T (CEACAM16) | ENSP00000466561.1:p.Arg235Cys | |
| NM_001039213.3:c.703C>T (CEACAM16) | NP_001034302.2:p.Arg235Cys | |
| XM_011526951.1:c.703C>T (CEACAM16) | XP_011525253.1:p.Arg235Cys | |
| NM_001039213.4:c.703C>T (CEACAM16) MANE Select | NP_001034302.2:p.Arg235Cys | |
| XM_017026795.1:c.703C>T (CEACAM16) | XP_016882284.1:p.Arg235Cys | |
| XR_001753953.1:n.436-6454G>A (CEACAM16-AS1) | ||
| XR_001753954.1:n.373-6454G>A (CEACAM16-AS1) |