Canonical Allele Identifier:
CA2671644293
Gene:
Linked Data
gnomAD v4:
4-105542480-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542480G>T , CM000666.2:g.105542480G>T | GRCh38 |
| NC_000004.11:g.106463637G>T , CM000666.1:g.106463637G>T | GRCh37 |
| NC_000004.10:g.106683086G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.525C>A | ||
| XR_939039.1:n.685C>A | ||
| XR_939040.1:n.296-1004C>A | ||
| XR_001741410.1:n.540C>A | ||
| XR_001741411.1:n.1016C>A | ||
| XR_001741412.1:n.449+91C>A | ||
| XR_001741413.1:n.540C>A | ||
| XR_001741414.1:n.449+91C>A | ||
| XR_939038.2:n.540C>A | ||
| XR_939040.2:n.311-1004C>A |