SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Canonical Allele Identifier:
CA439108452
Community Standard Title: NC_000004.12:g.40044067C>G
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40044067C>G , CM000666.2:g.40044067C>G | GRCh38 |
| NC_000004.11:g.40045687C>G , CM000666.1:g.40045687C>G | GRCh37 |
| NC_000004.10:g.39722082C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_027277.2:n.463G>C | |
| ENST00000381811.2:n.463G>C | |
| ENST00000507914.2:n.69G>C |