Canonical Allele Identifier:
CA2671644300
Gene:
Linked Data
gnomAD v4:
4-105542544-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542544C>A , CM000666.2:g.105542544C>A | GRCh38 |
| NC_000004.11:g.106463701C>A , CM000666.1:g.106463701C>A | GRCh37 |
| NC_000004.10:g.106683150C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.461G>T | ||
| XR_939039.1:n.621G>T | ||
| XR_939040.1:n.296-1068G>T | ||
| XR_001741410.1:n.476G>T | ||
| XR_001741411.1:n.952G>T | ||
| XR_001741412.1:n.449+27G>T | ||
| XR_001741413.1:n.476G>T | ||
| XR_001741414.1:n.449+27G>T | ||
| XR_939038.2:n.476G>T | ||
| XR_939040.2:n.311-1068G>T |