Canonical Allele Identifier: CA1593702

Linked Data

ClinVar Variation Id: 566608
dbSNP Id: rs753763148
gnomAD v2: 2-29420453-G-A
gnomAD v3: 2-29197587-G-A
gnomAD v4: 2-29197587-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197587G>A , CM000664.2:g.29197587G>A GRCh38
NC_000002.11:g.29420453G>A , CM000664.1:g.29420453G>A GRCh37
NC_000002.10:g.29273957G>A NCBI36
NG_009445.1:g.728980C>T , LRG_488:g.728980C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000689605.1:c.*581G>A (CLIP4) ENSP00000508948.1:n.*581G>A
ENST00000389048.8:c.4028C>T (ALK) MANE Select ENSP00000373700.3:p.Thr1343Ile
ENST00000431873.6:c.1255C>T (ALK)
ENST00000638605.1:n.905C>T (ALK)
ENST00000642122.1:c.824C>T (ALK) ENSP00000493203.1:p.Thr275Ile
ENST00000389048.7:c.4028C>T (ALK) ENSP00000373700.3:p.Thr1343Ile
ENST00000431873.5:c.908C>T (ALK) ENSP00000414027.2:p.Thr303Ile
ENST00000618119.4:c.2897C>T (ALK) ENSP00000482733.1:p.Thr966Ile
NM_004304.4:c.4028C>T (ALK) NP_004295.2:p.Thr1343Ile
NM_001353765.1:c.824C>T (ALK) NP_001340694.1:p.Thr275Ile
XM_024452778.1:c.1181C>T (ALK) XP_024308546.1:p.Thr394Ile
XM_024452779.1:c.824C>T (ALK) XP_024308547.1:p.Thr275Ile
NM_004304.5:c.4028C>T (ALK) MANE Select NP_004295.2:p.Thr1343Ile
NM_001353765.2:c.824C>T (ALK) NP_001340694.1:p.Thr275Ile