Canonical Allele Identifier: CA156593

Gene: ALK

Linked Data

• ClinVar Variation Id: 133459
• ClinVar RCV Id: RCV000119963 ; RCV000470397
• dbSNP Id: rs55697431
• ExAC: 2:30143039 C / A
• gnomAD v2: 2-30143039-C-A
• gnomAD v3: 2-29920173-C-A
• gnomAD v4: 2-29920173-C-A
• MyVariant Identifiers: chr2:g.30143039C>A (hg19) ; chr2:g.29920173C>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920173C>A , CM000664.2:g.29920173C>A	GRCh38
NC_000002.11:g.30143039C>A , CM000664.1:g.30143039C>A	GRCh37
NC_000002.10:g.29996543C>A	NCBI36
NG_009445.1:g.6394G>T , LRG_488:g.6394G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.487G>T MANE Select	ENSP00000373700.3:p.Val163Leu
ENST00000389048.7:c.487G>T	ENSP00000373700.3:p.Val163Leu
NM_004304.4:c.487G>T	NP_004295.2:p.Val163Leu
XR_001738688.2:n.1417G>T
NM_004304.5:c.487G>T MANE Select	NP_004295.2:p.Val163Leu