Linked Data
dbSNP Id:
rs369648488
gnomAD v2:
22-37260868-T-TTCCTCC
gnomAD v3:
22-36864826-T-TTCCTCC
gnomAD v4:
22-36864826-T-TTCCTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36864839_36864844dup , CM000684.2:g.36864839_36864844dup | GRCh38 |
| NC_000022.10:g.37260881_37260886dup , CM000684.1:g.37260881_37260886dup | GRCh37 |
| NC_000022.9:g.35590827_35590832dup | NCBI36 |
| NG_023400.1:g.8852_8857dup , LRG_159:g.8852_8857dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248899.11:c.118-80_118-75dup (NCF4) MANE Select | ENSP00000248899.6:n.118-80_118-75dup | |
| ENST00000397147.7:c.118-80_118-75dup (NCF4) | ENSP00000380334.4:n.118-80_118-75dup | |
| ENST00000650698.1:c.-192-80_-192-75dup (NCF4) | ENSP00000498381.1:n.-192-80_-192-75dup | |
| ENST00000650827.1:c.-192-80_-192-75dup (NCF4) | ENSP00000498212.1:n.-192-80_-192-75dup | |
| ENST00000651053.1:n.423-80_423-75dup (NCF4) | ||
| ENST00000248899.10:c.118-80_118-75dup (NCF4) | ENSP00000248899.6:n.118-80_118-75dup | |
| ENST00000397147.6:c.118-80_118-75dup (NCF4) | ENSP00000380334.4:n.118-80_118-75dup | |
| ENST00000447071.5:c.-192-80_-192-75dup (NCF4) | ENSP00000414958.1:n.-192-80_-192-75dup | |
| NM_000631.4:c.118-80_118-75dup (NCF4) | NP_000622.2:n.118-80_118-75dup | |
| NM_013416.3:c.118-80_118-75dup , LRG_159t1:c.118-80_118-75dup (NCF4) | NP_038202.2:n.118-80_118-75dup | |
| XM_011530198.1:c.292-80_292-75dup (NCF4) | XP_011528500.1:n.292-80_292-75dup | |
| XM_011530199.1:c.262-80_262-75dup (NCF4) | XP_011528501.1:n.262-80_262-75dup | |
| NR_147197.1:n.351+5261_351+5266dup (NCF4-AS1) | ||
| XM_017028808.1:c.-192-80_-192-75dup (NCF4) | XP_016884297.1:n.-192-80_-192-75dup | |
| NM_000631.5:c.118-80_118-75dup (NCF4) MANE Select | NP_000622.2:n.118-80_118-75dup | |
| NM_013416.4:c.118-80_118-75dup (NCF4) | NP_038202.2:n.118-80_118-75dup |