Linked Data
ClinVar Variation Id:
538310
ClinVar RCV Id:
RCV000647519
dbSNP Id:
rs749848775
ExAC:
2:29420551 G / A
gnomAD v2:
2-29420551-G-A
gnomAD v3:
2-29197685-G-A
gnomAD v4:
2-29197685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29197685G>A , CM000664.2:g.29197685G>A | GRCh38 |
| NC_000002.11:g.29420551G>A , CM000664.1:g.29420551G>A | GRCh37 |
| NC_000002.10:g.29274055G>A | NCBI36 |
| NG_009445.1:g.728882C>T , LRG_488:g.728882C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689605.1:c.*679G>A (CLIP4) | ENSP00000508948.1:n.*679G>A | |
| ENST00000389048.8:c.3939-9C>T (ALK) MANE Select | ENSP00000373700.3:n.3939-9C>T | |
| ENST00000431873.6:c.1166-9C>T (ALK) | ||
| ENST00000638605.1:n.816-9C>T (ALK) | ||
| ENST00000642122.1:c.735-9C>T (ALK) | ENSP00000493203.1:n.735-9C>T | |
| ENST00000389048.7:c.3939-9C>T (ALK) | ENSP00000373700.3:n.3939-9C>T | |
| ENST00000431873.5:c.819-9C>T (ALK) | ENSP00000414027.2:n.819-9C>T | |
| ENST00000618119.4:c.2808-9C>T (ALK) | ENSP00000482733.1:n.2808-9C>T | |
| NM_004304.4:c.3939-9C>T (ALK) | NP_004295.2:n.3939-9C>T | |
| NM_001353765.1:c.735-9C>T (ALK) | NP_001340694.1:n.735-9C>T | |
| XM_024452778.1:c.1092-9C>T (ALK) | XP_024308546.1:n.1092-9C>T | |
| XM_024452779.1:c.735-9C>T (ALK) | XP_024308547.1:n.735-9C>T | |
| NM_004304.5:c.3939-9C>T (ALK) MANE Select | NP_004295.2:n.3939-9C>T | |
| NM_001353765.2:c.735-9C>T (ALK) | NP_001340694.1:n.735-9C>T |