SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
ALLELE REGISTRY - SERVICE INTERRUPTION2024-08-10T11:00:00-0500 — 2024-08-10T15:00:00-0500
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.
Linked Data
dbSNP Id:
rs760041839
ExAC:
11:47355435 T / C
gnomAD v2:
11-47355435-T-C
gnomAD v3:
11-47333884-T-C
gnomAD v4:
11-47333884-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333884T>C , CM000673.2:g.47333884T>C | GRCh38 |
| NC_000011.9:g.47355435T>C , CM000673.1:g.47355435T>C | GRCh37 |
| NC_000011.8:g.47312011T>C | NCBI36 |
| NG_007667.1:g.23819A>G , LRG_386:g.23819A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2994+38A>G MANE Select | ENSP00000442795.1:n.2994+38A>G | |
| ENST00000256993.8:c.2994+38A>G | ENSP00000256993.5:n.2994+38A>G | |
| ENST00000399249.6:c.2994+38A>G | ENSP00000382193.2:n.2994+38A>G | |
| ENST00000545968.5:c.2994+38A>G | ENSP00000442795.1:n.2994+38A>G | |
| NM_000256.3:c.2994+38A>G , LRG_386t1:c.2994+38A>G MANE Select | NP_000247.2:n.2994+38A>G | |
| XM_011520117.1:c.2976+38A>G | XP_011518419.1:n.2976+38A>G | |
| XM_011520118.1:c.2913+38A>G | XP_011518420.1:n.2913+38A>G |