Canonical Allele Identifier:
CA439108451
Community Standard Title: NC_000004.12:g.40044067C>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40044067C>A , CM000666.2:g.40044067C>A | GRCh38 |
| NC_000004.11:g.40045687C>A , CM000666.1:g.40045687C>A | GRCh37 |
| NC_000004.10:g.39722082C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_027277.2:n.463G>T | |
| ENST00000381811.2:n.463G>T | |
| ENST00000507914.2:n.69G>T |