Canonical Allele Identifier: CA346461937

Linked Data

ClinVar Variation Id: 1002872
ClinVar RCV Id: RCV001299355
dbSNP Id: rs1441987948
gnomAD v2: 2-29416470-A-T
gnomAD v4: 2-29193604-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29193604A>T , CM000664.2:g.29193604A>T GRCh38
NC_000002.11:g.29416470A>T , CM000664.1:g.29416470A>T GRCh37
NC_000002.10:g.29269974A>T NCBI36
NG_009445.1:g.732963T>A , LRG_488:g.732963T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.1923-3324A>T (CLIP4) ENSP00000508948.1:n.1923-3324A>T
ENST00000389048.8:c.4483T>A (ALK) MANE Select ENSP00000373700.3:p.Ser1495Thr
ENST00000431873.6:c.1710T>A (ALK)
ENST00000638605.1:n.1360T>A (ALK)
ENST00000642122.1:c.1279T>A (ALK) ENSP00000493203.1:p.Ser427Thr
ENST00000389048.7:c.4483T>A (ALK) ENSP00000373700.3:p.Ser1495Thr
ENST00000431873.5:c.1363T>A (ALK) ENSP00000414027.2:p.Ser455Thr
ENST00000618119.4:c.3352T>A (ALK) ENSP00000482733.1:p.Ser1118Thr
NM_004304.4:c.4483T>A (ALK) NP_004295.2:p.Ser1495Thr
NM_001353765.1:c.1279T>A (ALK) NP_001340694.1:p.Ser427Thr
XM_024452778.1:c.1636T>A (ALK) XP_024308546.1:p.Ser546Thr
XM_024452779.1:c.1279T>A (ALK) XP_024308547.1:p.Ser427Thr
NM_004304.5:c.4483T>A (ALK) MANE Select NP_004295.2:p.Ser1495Thr
NM_001353765.2:c.1279T>A (ALK) NP_001340694.1:p.Ser427Thr