Linked Data
ClinVar Variation Id:
1412015
ClinVar RCV Id:
RCV001943111
dbSNP Id:
rs746353194
gnomAD v2:
22-37261013-G-A
gnomAD v3:
22-36864971-G-A
gnomAD v4:
22-36864971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36864971G>A , CM000684.2:g.36864971G>A | GRCh38 |
| NC_000022.10:g.37261013G>A , CM000684.1:g.37261013G>A | GRCh37 |
| NC_000022.9:g.35590959G>A | NCBI36 |
| NG_023400.1:g.8984G>A , LRG_159:g.8984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248899.11:c.170G>A (NCF4) MANE Select | ENSP00000248899.6:p.Arg57His | |
| ENST00000397147.7:c.170G>A (NCF4) | ENSP00000380334.4:p.Arg57His | |
| ENST00000650698.1:c.-140G>A (NCF4) | ENSP00000498381.1:n.-140G>A | |
| ENST00000650827.1:c.-140G>A (NCF4) | ENSP00000498212.1:n.-140G>A | |
| ENST00000651053.1:n.475G>A (NCF4) | ||
| ENST00000248899.10:c.170G>A (NCF4) | ENSP00000248899.6:p.Arg57His | |
| ENST00000397147.6:c.170G>A (NCF4) | ENSP00000380334.4:p.Arg57His | |
| ENST00000447071.5:c.-140G>A (NCF4) | ENSP00000414958.1:n.-140G>A | |
| NM_000631.4:c.170G>A (NCF4) | NP_000622.2:p.Arg57His | |
| NM_013416.3:c.170G>A , LRG_159t1:c.170G>A (NCF4) | NP_038202.2:p.Arg57His | |
| XM_011530198.1:c.344G>A (NCF4) | XP_011528500.1:p.Arg115His | |
| XM_011530199.1:c.314G>A (NCF4) | XP_011528501.1:p.Arg105His | |
| NR_147197.1:n.351+5122C>T (NCF4-AS1) | ||
| XM_017028808.1:c.-140G>A (NCF4) | XP_016884297.1:n.-140G>A | |
| NM_000631.5:c.170G>A (NCF4) MANE Select | NP_000622.2:p.Arg57His | |
| NM_013416.4:c.170G>A (NCF4) | NP_038202.2:p.Arg57His |