Canonical Allele Identifier: CA1593697

Linked Data

ClinVar Variation Id: 850828
dbSNP Id: rs368744524
gnomAD v2: 2-29420436-C-G
gnomAD v3: 2-29197570-C-G
gnomAD v4: 2-29197570-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197570C>G , CM000664.2:g.29197570C>G GRCh38
NC_000002.11:g.29420436C>G , CM000664.1:g.29420436C>G GRCh37
NC_000002.10:g.29273940C>G NCBI36
NG_009445.1:g.728997G>C , LRG_488:g.728997G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.*564C>G (CLIP4) ENSP00000508948.1:n.*564C>G
ENST00000389048.8:c.4045G>C (ALK) MANE Select ENSP00000373700.3:p.Asp1349His
ENST00000431873.6:c.1272G>C (ALK)
ENST00000638605.1:n.922G>C (ALK)
ENST00000642122.1:c.841G>C (ALK) ENSP00000493203.1:p.Asp281His
ENST00000389048.7:c.4045G>C (ALK) ENSP00000373700.3:p.Asp1349His
ENST00000431873.5:c.925G>C (ALK) ENSP00000414027.2:p.Asp309His
ENST00000618119.4:c.2914G>C (ALK) ENSP00000482733.1:p.Asp972His
NM_004304.4:c.4045G>C (ALK) NP_004295.2:p.Asp1349His
NM_001353765.1:c.841G>C (ALK) NP_001340694.1:p.Asp281His
XM_024452778.1:c.1198G>C (ALK) XP_024308546.1:p.Asp400His
XM_024452779.1:c.841G>C (ALK) XP_024308547.1:p.Asp281His
NM_004304.5:c.4045G>C (ALK) MANE Select NP_004295.2:p.Asp1349His
NM_001353765.2:c.841G>C (ALK) NP_001340694.1:p.Asp281His