Canonical Allele Identifier: CA346468110
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 999811
ClinVar RCV Id: RCV001295852
dbSNP Id: rs1472378906
gnomAD v3: 2-29227065-C-G
gnomAD v4: 2-29227065-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29227065C>G , CM000664.2:g.29227065C>G GRCh38
NC_000002.11:g.29449931C>G , CM000664.1:g.29449931C>G GRCh37
NC_000002.10:g.29303435C>G NCBI36
NG_009445.1:g.699502G>C , LRG_488:g.699502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.2924G>C MANE Select ENSP00000373700.3:p.Gly975Ala
ENST00000431873.6:c.90G>C
ENST00000389048.7:c.2924G>C ENSP00000373700.3:p.Gly975Ala
ENST00000618119.4:c.1793G>C ENSP00000482733.1:p.Gly598Ala
NM_004304.4:c.2924G>C NP_004295.2:p.Gly975Ala
XM_024452778.1:c.77G>C XP_024308546.1:p.Gly26Ala
XR_001738688.2:n.3780G>C
NM_004304.5:c.2924G>C MANE Select NP_004295.2:p.Gly975Ala