Canonical Allele Identifier:
CA2671644292
Gene:
Linked Data
gnomAD v4:
4-105542473-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542473C>A , CM000666.2:g.105542473C>A | GRCh38 |
| NC_000004.11:g.106463630C>A , CM000666.1:g.106463630C>A | GRCh37 |
| NC_000004.10:g.106683079C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.532G>T | ||
| XR_939039.1:n.692G>T | ||
| XR_939040.1:n.296-997G>T | ||
| XR_001741410.1:n.547G>T | ||
| XR_001741411.1:n.1023G>T | ||
| XR_001741412.1:n.449+98G>T | ||
| XR_001741413.1:n.547G>T | ||
| XR_001741414.1:n.449+98G>T | ||
| XR_939038.2:n.547G>T | ||
| XR_939040.2:n.311-997G>T |