Linked Data
ClinVar Variation Id:
1095067
ClinVar RCV Id:
RCV001415845
dbSNP Id:
rs373041130
ExAC:
22:37261062 C / T
gnomAD v2:
22-37261062-C-T
gnomAD v3:
22-36865020-C-T
gnomAD v4:
22-36865020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36865020C>T , CM000684.2:g.36865020C>T | GRCh38 |
| NC_000022.10:g.37261062C>T , CM000684.1:g.37261062C>T | GRCh37 |
| NC_000022.9:g.35591008C>T | NCBI36 |
| NG_023400.1:g.9033C>T , LRG_159:g.9033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248899.11:c.219C>T (NCF4) MANE Select | ENSP00000248899.6:p.Phe73= | |
| ENST00000397147.7:c.219C>T (NCF4) | ENSP00000380334.4:p.Phe73= | |
| ENST00000650698.1:c.-91C>T (NCF4) | ENSP00000498381.1:n.-91C>T | |
| ENST00000650827.1:c.-91C>T (NCF4) | ENSP00000498212.1:n.-91C>T | |
| ENST00000651053.1:n.524C>T (NCF4) | ||
| ENST00000248899.10:c.219C>T (NCF4) | ENSP00000248899.6:p.Phe73= | |
| ENST00000397147.6:c.219C>T (NCF4) | ENSP00000380334.4:p.Phe73= | |
| ENST00000447071.5:c.-91C>T (NCF4) | ENSP00000414958.1:n.-91C>T | |
| NM_000631.4:c.219C>T (NCF4) | NP_000622.2:p.Phe73= | |
| NM_013416.3:c.219C>T , LRG_159t1:c.219C>T (NCF4) | NP_038202.2:p.Phe73= | |
| XM_011530198.1:c.393C>T (NCF4) | XP_011528500.1:p.Phe131= | |
| XM_011530199.1:c.363C>T (NCF4) | XP_011528501.1:p.Phe121= | |
| NR_147197.1:n.351+5073G>A (NCF4-AS1) | ||
| XM_017028808.1:c.-91C>T (NCF4) | XP_016884297.1:n.-91C>T | |
| NM_000631.5:c.219C>T (NCF4) MANE Select | NP_000622.2:p.Phe73= | |
| NM_013416.4:c.219C>T (NCF4) | NP_038202.2:p.Phe73= |