Linked Data
ClinVar Variation Id:
2284727
ClinVar RCV Id:
RCV004132615
dbSNP Id:
rs1378411383
gnomAD v2:
11-58391972-A-G
gnomAD v3:
11-58624499-A-G
gnomAD v4:
11-58624499-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.58624499A>G , CM000673.2:g.58624499A>G | GRCh38 |
| NC_000011.9:g.58391972A>G , CM000673.1:g.58391972A>G | GRCh37 |
| NC_000011.8:g.58148548A>G | NCBI36 |
| NG_008776.1:g.6827A>G | |
| NG_008776.2:g.6827A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361987.6:c.580A>G (CNTF) MANE Select | ENSP00000355370.4:p.Ile194Val | |
| ENST00000361987.5:c.580A>G (CNTF) | ENSP00000355370.4:p.Ile194Val | |
| ENST00000389919.8:c.*552A>G (ZFP91-CNTF) | ENSP00000455911.1:n.*552A>G | |
| ENST00000422974.2:c.1648A>G (ZFP91-CNTF) | ENSP00000457288.1:n.1648A>G | |
| NM_000614.3:c.580A>G (CNTF) | NP_000605.1:p.Ile194Val | |
| NR_024091.1:n.2310A>G (ZFP91-CNTF) | ||
| NM_000614.4:c.580A>G (CNTF) MANE Select | NP_000605.1:p.Ile194Val |