Linked Data
ClinVar Variation Id:
404316
dbSNP Id:
rs143647372
ExAC:
2:29416753 T / G
gnomAD v2:
2-29416753-T-G
gnomAD v3:
2-29193887-T-G
gnomAD v4:
2-29193887-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193887T>G , CM000664.2:g.29193887T>G | GRCh38 |
| NC_000002.11:g.29416753T>G , CM000664.1:g.29416753T>G | GRCh37 |
| NC_000002.10:g.29270257T>G | NCBI36 |
| NG_009445.1:g.732680A>C , LRG_488:g.732680A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3041T>G (CLIP4) | ENSP00000508948.1:n.1923-3041T>G | |
| ENST00000389048.8:c.4200A>C (ALK) MANE Select | ENSP00000373700.3:p.Glu1400Asp | |
| ENST00000431873.6:c.1427A>C (ALK) | ||
| ENST00000638605.1:n.1077A>C (ALK) | ||
| ENST00000642122.1:c.996A>C (ALK) | ENSP00000493203.1:p.Glu332Asp | |
| ENST00000389048.7:c.4200A>C (ALK) | ENSP00000373700.3:p.Glu1400Asp | |
| ENST00000431873.5:c.1080A>C (ALK) | ENSP00000414027.2:p.Glu360Asp | |
| ENST00000618119.4:c.3069A>C (ALK) | ENSP00000482733.1:p.Glu1023Asp | |
| NM_004304.4:c.4200A>C (ALK) | NP_004295.2:p.Glu1400Asp | |
| NM_001353765.1:c.996A>C (ALK) | NP_001340694.1:p.Glu332Asp | |
| XM_024452778.1:c.1353A>C (ALK) | XP_024308546.1:p.Glu451Asp | |
| XM_024452779.1:c.996A>C (ALK) | XP_024308547.1:p.Glu332Asp | |
| NM_004304.5:c.4200A>C (ALK) MANE Select | NP_004295.2:p.Glu1400Asp | |
| NM_001353765.2:c.996A>C (ALK) | NP_001340694.1:p.Glu332Asp |