Canonical Allele Identifier: CA1593578

Linked Data

ClinVar Variation Id: 239836
ClinVar RCV Id: RCV000986609
dbSNP Id: rs372471601
gnomAD v2: 2-29416546-C-T
gnomAD v3: 2-29193680-C-T
gnomAD v4: 2-29193680-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29193680C>T , CM000664.2:g.29193680C>T GRCh38
NC_000002.11:g.29416546C>T , CM000664.1:g.29416546C>T GRCh37
NC_000002.10:g.29270050C>T NCBI36
NG_009445.1:g.732887G>A , LRG_488:g.732887G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000689605.1:c.1923-3248C>T (CLIP4) ENSP00000508948.1:n.1923-3248C>T
ENST00000389048.8:c.4407G>A (ALK) MANE Select ENSP00000373700.3:p.Pro1469=
ENST00000431873.6:c.1634G>A (ALK)
ENST00000638605.1:n.1284G>A (ALK)
ENST00000642122.1:c.1203G>A (ALK) ENSP00000493203.1:p.Pro401=
ENST00000389048.7:c.4407G>A (ALK) ENSP00000373700.3:p.Pro1469=
ENST00000431873.5:c.1287G>A (ALK) ENSP00000414027.2:p.Pro429=
ENST00000618119.4:c.3276G>A (ALK) ENSP00000482733.1:p.Pro1092=
NM_004304.4:c.4407G>A (ALK) NP_004295.2:p.Pro1469=
NM_001353765.1:c.1203G>A (ALK) NP_001340694.1:p.Pro401=
XM_024452778.1:c.1560G>A (ALK) XP_024308546.1:p.Pro520=
XM_024452779.1:c.1203G>A (ALK) XP_024308547.1:p.Pro401=
NM_004304.5:c.4407G>A (ALK) MANE Select NP_004295.2:p.Pro1469=
NM_001353765.2:c.1203G>A (ALK) NP_001340694.1:p.Pro401=