Canonical Allele Identifier:
CA2671644291
Gene:
Linked Data
gnomAD v4:
4-105542468-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542468G>T , CM000666.2:g.105542468G>T | GRCh38 |
| NC_000004.11:g.106463625G>T , CM000666.1:g.106463625G>T | GRCh37 |
| NC_000004.10:g.106683074G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.537C>A | ||
| XR_939039.1:n.697C>A | ||
| XR_939040.1:n.296-992C>A | ||
| XR_001741410.1:n.552C>A | ||
| XR_001741411.1:n.1028C>A | ||
| XR_001741412.1:n.449+103C>A | ||
| XR_001741413.1:n.552C>A | ||
| XR_001741414.1:n.449+103C>A | ||
| XR_939038.2:n.552C>A | ||
| XR_939040.2:n.311-992C>A |