Linked Data
ClinVar Variation Id:
500837
dbSNP Id:
rs143532979
ExAC:
22:37261015 C / T
gnomAD v2:
22-37261015-C-T
gnomAD v3:
22-36864973-C-T
gnomAD v4:
22-36864973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36864973C>T , CM000684.2:g.36864973C>T | GRCh38 |
| NC_000022.10:g.37261015C>T , CM000684.1:g.37261015C>T | GRCh37 |
| NC_000022.9:g.35590961C>T | NCBI36 |
| NG_023400.1:g.8986C>T , LRG_159:g.8986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248899.11:c.172C>T (NCF4) MANE Select | ENSP00000248899.6:p.Arg58Cys | |
| ENST00000397147.7:c.172C>T (NCF4) | ENSP00000380334.4:p.Arg58Cys | |
| ENST00000650698.1:c.-138C>T (NCF4) | ENSP00000498381.1:n.-138C>T | |
| ENST00000650827.1:c.-138C>T (NCF4) | ENSP00000498212.1:n.-138C>T | |
| ENST00000651053.1:n.477C>T (NCF4) | ||
| ENST00000248899.10:c.172C>T (NCF4) | ENSP00000248899.6:p.Arg58Cys | |
| ENST00000397147.6:c.172C>T (NCF4) | ENSP00000380334.4:p.Arg58Cys | |
| ENST00000447071.5:c.-138C>T (NCF4) | ENSP00000414958.1:n.-138C>T | |
| NM_000631.4:c.172C>T (NCF4) | NP_000622.2:p.Arg58Cys | |
| NM_013416.3:c.172C>T , LRG_159t1:c.172C>T (NCF4) | NP_038202.2:p.Arg58Cys | |
| XM_011530198.1:c.346C>T (NCF4) | XP_011528500.1:p.Arg116Cys | |
| XM_011530199.1:c.316C>T (NCF4) | XP_011528501.1:p.Arg106Cys | |
| NR_147197.1:n.351+5120G>A (NCF4-AS1) | ||
| XM_017028808.1:c.-138C>T (NCF4) | XP_016884297.1:n.-138C>T | |
| NM_000631.5:c.172C>T (NCF4) MANE Select | NP_000622.2:p.Arg58Cys | |
| NM_013416.4:c.172C>T (NCF4) | NP_038202.2:p.Arg58Cys |