Canonical Allele Identifier:
CA2671644290
Gene:
Linked Data
gnomAD v4:
4-105542465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542465T>C , CM000666.2:g.105542465T>C | GRCh38 |
| NC_000004.11:g.106463622T>C , CM000666.1:g.106463622T>C | GRCh37 |
| NC_000004.10:g.106683071T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.540A>G | ||
| XR_939039.1:n.700A>G | ||
| XR_939040.1:n.296-989A>G | ||
| XR_001741410.1:n.555A>G | ||
| XR_001741411.1:n.1031A>G | ||
| XR_001741412.1:n.449+106A>G | ||
| XR_001741413.1:n.555A>G | ||
| XR_001741414.1:n.449+106A>G | ||
| XR_939038.2:n.555A>G | ||
| XR_939040.2:n.311-989A>G |