Linked Data
ClinVar Variation Id:
335690
dbSNP Id:
rs886055929
gnomAD v2:
2-29416609-G-A
gnomAD v3:
2-29193743-G-A
gnomAD v4:
2-29193743-G-A
COSMIC:
COSM3910208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193743G>A , CM000664.2:g.29193743G>A | GRCh38 |
| NC_000002.11:g.29416609G>A , CM000664.1:g.29416609G>A | GRCh37 |
| NC_000002.10:g.29270113G>A | NCBI36 |
| NG_009445.1:g.732824C>T , LRG_488:g.732824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3185G>A (CLIP4) | ENSP00000508948.1:n.1923-3185G>A | |
| ENST00000389048.8:c.4344C>T (ALK) MANE Select | ENSP00000373700.3:p.Ser1448= | |
| ENST00000431873.6:c.1571C>T (ALK) | ||
| ENST00000638605.1:n.1221C>T (ALK) | ||
| ENST00000642122.1:c.1140C>T (ALK) | ENSP00000493203.1:p.Ser380= | |
| ENST00000389048.7:c.4344C>T (ALK) | ENSP00000373700.3:p.Ser1448= | |
| ENST00000431873.5:c.1224C>T (ALK) | ENSP00000414027.2:p.Ser408= | |
| ENST00000618119.4:c.3213C>T (ALK) | ENSP00000482733.1:p.Ser1071= | |
| NM_004304.4:c.4344C>T (ALK) | NP_004295.2:p.Ser1448= | |
| NM_001353765.1:c.1140C>T (ALK) | NP_001340694.1:p.Ser380= | |
| XM_024452778.1:c.1497C>T (ALK) | XP_024308546.1:p.Ser499= | |
| XM_024452779.1:c.1140C>T (ALK) | XP_024308547.1:p.Ser380= | |
| NM_004304.5:c.4344C>T (ALK) MANE Select | NP_004295.2:p.Ser1448= | |
| NM_001353765.2:c.1140C>T (ALK) | NP_001340694.1:p.Ser380= |