Linked Data
ClinVar Variation Id:
341546
ClinVar RCV Id:
RCV001233497
dbSNP Id:
rs756372095
ExAC:
22:37257241 G / A
gnomAD v2:
22-37257241-G-A
gnomAD v3:
22-36861199-G-A
gnomAD v4:
22-36861199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36861199G>A , CM000684.2:g.36861199G>A | GRCh38 |
| NC_000022.10:g.37257241G>A , CM000684.1:g.37257241G>A | GRCh37 |
| NC_000022.9:g.35587187G>A | NCBI36 |
| NG_023400.1:g.5212G>A , LRG_159:g.5212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248899.11:c.28G>A (NCF4) MANE Select | ENSP00000248899.6:p.Glu10Lys | |
| ENST00000397147.7:c.28G>A (NCF4) | ENSP00000380334.4:p.Glu10Lys | |
| ENST00000248899.10:c.28G>A (NCF4) | ENSP00000248899.6:p.Glu10Lys | |
| ENST00000397147.6:c.28G>A (NCF4) | ENSP00000380334.4:p.Glu10Lys | |
| ENST00000447071.5:c.-197G>A (NCF4) | ENSP00000414958.1:n.-197G>A | |
| NM_000631.4:c.28G>A (NCF4) | NP_000622.2:p.Glu10Lys | |
| NM_013416.3:c.28G>A , LRG_159t1:c.28G>A (NCF4) | NP_038202.2:p.Glu10Lys | |
| NR_147197.1:n.351+8894C>T (NCF4-AS1) | ||
| NM_000631.5:c.28G>A (NCF4) MANE Select | NP_000622.2:p.Glu10Lys | |
| NM_013416.4:c.28G>A (NCF4) | NP_038202.2:p.Glu10Lys |