Canonical Allele Identifier: CA44637668

Linked Data

ClinVar Variation Id: 1218873
ClinVar RCV Id: RCV001594069
dbSNP Id: rs145976429
gnomAD v2: 2-29420005-C-A
gnomAD v3: 2-29197139-C-A
gnomAD v4: 2-29197139-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197139C>A , CM000664.2:g.29197139C>A GRCh38
NC_000002.11:g.29420005C>A , CM000664.1:g.29420005C>A GRCh37
NC_000002.10:g.29273509C>A NCBI36
NG_009445.1:g.729428G>T , LRG_488:g.729428G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.*133C>A (CLIP4) ENSP00000508948.1:n.*133C>A
ENST00000389048.8:c.4074-279G>T (ALK) MANE Select ENSP00000373700.3:n.4074-279G>T
ENST00000431873.6:c.1301-279G>T (ALK)
ENST00000638605.1:n.951-279G>T (ALK)
ENST00000642122.1:c.870-279G>T (ALK) ENSP00000493203.1:n.870-279G>T
ENST00000389048.7:c.4074-279G>T (ALK) ENSP00000373700.3:n.4074-279G>T
ENST00000431873.5:c.954-279G>T (ALK) ENSP00000414027.2:n.954-279G>T
ENST00000618119.4:c.2943-279G>T (ALK) ENSP00000482733.1:n.2943-279G>T
NM_004304.4:c.4074-279G>T (ALK) NP_004295.2:n.4074-279G>T
NM_001353765.1:c.870-279G>T (ALK) NP_001340694.1:n.870-279G>T
XM_024452778.1:c.1227-279G>T (ALK) XP_024308546.1:n.1227-279G>T
XM_024452779.1:c.870-279G>T (ALK) XP_024308547.1:n.870-279G>T
NM_004304.5:c.4074-279G>T (ALK) MANE Select NP_004295.2:n.4074-279G>T
NM_001353765.2:c.870-279G>T (ALK) NP_001340694.1:n.870-279G>T