Canonical Allele Identifier: CA531464417

Linked Data

dbSNP Id: rs1443789387
gnomAD v2: 2-29420046-C-T
gnomAD v3: 2-29197180-C-T
gnomAD v4: 2-29197180-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197180C>T , CM000664.2:g.29197180C>T GRCh38
NC_000002.11:g.29420046C>T , CM000664.1:g.29420046C>T GRCh37
NC_000002.10:g.29273550C>T NCBI36
NG_009445.1:g.729387G>A , LRG_488:g.729387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.*174C>T (CLIP4) ENSP00000508948.1:n.*174C>T
ENST00000389048.8:c.4074-320G>A (ALK) MANE Select ENSP00000373700.3:n.4074-320G>A
ENST00000431873.6:c.1301-320G>A (ALK)
ENST00000638605.1:n.951-320G>A (ALK)
ENST00000642122.1:c.870-320G>A (ALK) ENSP00000493203.1:n.870-320G>A
ENST00000389048.7:c.4074-320G>A (ALK) ENSP00000373700.3:n.4074-320G>A
ENST00000431873.5:c.954-320G>A (ALK) ENSP00000414027.2:n.954-320G>A
ENST00000618119.4:c.2943-320G>A (ALK) ENSP00000482733.1:n.2943-320G>A
NM_004304.4:c.4074-320G>A (ALK) NP_004295.2:n.4074-320G>A
NM_001353765.1:c.870-320G>A (ALK) NP_001340694.1:n.870-320G>A
XM_024452778.1:c.1227-320G>A (ALK) XP_024308546.1:n.1227-320G>A
XM_024452779.1:c.870-320G>A (ALK) XP_024308547.1:n.870-320G>A
NM_004304.5:c.4074-320G>A (ALK) MANE Select NP_004295.2:n.4074-320G>A
NM_001353765.2:c.870-320G>A (ALK) NP_001340694.1:n.870-320G>A