Linked Data
ClinVar Variation Id:
404353
dbSNP Id:
rs199646095
ExAC:
2:29416307 C / A
gnomAD v2:
2-29416307-C-A
gnomAD v3:
2-29193441-C-A
gnomAD v4:
2-29193441-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193441C>A , CM000664.2:g.29193441C>A | GRCh38 |
| NC_000002.11:g.29416307C>A , CM000664.1:g.29416307C>A | GRCh37 |
| NC_000002.10:g.29269811C>A | NCBI36 |
| NG_009445.1:g.733126G>T , LRG_488:g.733126G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3487C>A (CLIP4) | ENSP00000508948.1:n.1923-3487C>A | |
| ENST00000389048.8:c.4646G>T (ALK) MANE Select | ENSP00000373700.3:p.Arg1549Ile | |
| ENST00000431873.6:c.1873G>T (ALK) | ||
| ENST00000638605.1:n.1523G>T (ALK) | ||
| ENST00000642122.1:c.1442G>T (ALK) | ENSP00000493203.1:p.Arg481Ile | |
| ENST00000389048.7:c.4646G>T (ALK) | ENSP00000373700.3:p.Arg1549Ile | |
| ENST00000431873.5:c.1526G>T (ALK) | ENSP00000414027.2:p.Arg509Ile | |
| ENST00000618119.4:c.3515G>T (ALK) | ENSP00000482733.1:p.Arg1172Ile | |
| NM_004304.4:c.4646G>T (ALK) | NP_004295.2:p.Arg1549Ile | |
| NM_001353765.1:c.1442G>T (ALK) | NP_001340694.1:p.Arg481Ile | |
| XM_024452778.1:c.1799G>T (ALK) | XP_024308546.1:p.Arg600Ile | |
| XM_024452779.1:c.1442G>T (ALK) | XP_024308547.1:p.Arg481Ile | |
| NM_004304.5:c.4646G>T (ALK) MANE Select | NP_004295.2:p.Arg1549Ile | |
| NM_001353765.2:c.1442G>T (ALK) | NP_001340694.1:p.Arg481Ile |