Canonical Allele Identifier: CA346467627
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 647054
ClinVar RCV Id: RCV000801463 RCV003166208
dbSNP Id: rs1573131702
gnomAD v4: 2-29226970-A-C
MyVariant Identifiers: chr2:g.29449836A>C (hg19) chr2:g.29226970A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29226970A>C , CM000664.2:g.29226970A>C GRCh38
NC_000002.11:g.29449836A>C , CM000664.1:g.29449836A>C GRCh37
NC_000002.10:g.29303340A>C NCBI36
NG_009445.1:g.699597T>G , LRG_488:g.699597T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3019T>G MANE Select ENSP00000373700.3:p.Phe1007Val
ENST00000431873.6:c.185T>G
ENST00000389048.7:c.3019T>G ENSP00000373700.3:p.Phe1007Val
ENST00000618119.4:c.1888T>G ENSP00000482733.1:p.Phe630Val
NM_004304.4:c.3019T>G NP_004295.2:p.Phe1007Val
XM_024452778.1:c.172T>G XP_024308546.1:p.Phe58Val
XR_001738688.2:n.3875T>G
NM_004304.5:c.3019T>G MANE Select NP_004295.2:p.Phe1007Val
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