Canonical Allele Identifier: CA156656

Gene: ALK

Linked Data

• ClinVar Variation Id: 133480
• ClinVar RCV Id: RCV000119984 ; RCV000233768 ; RCV001575009 ; RCV002255291 ; RCV003905136
• dbSNP Id: rs150966028
• ExAC: 2:29917736 C / T
• gnomAD v2: 2-29917736-C-T
• gnomAD v3: 2-29694870-C-T
• gnomAD v4: 2-29694870-C-T
• COSMIC: COSM1236664
• MyVariant Identifiers: chr2:g.29917736C>T (hg19) ; chr2:g.29694870C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29694870C>T , CM000664.2:g.29694870C>T	GRCh38
NC_000002.11:g.29917736C>T , CM000664.1:g.29917736C>T	GRCh37
NC_000002.10:g.29771240C>T	NCBI36
NG_009445.1:g.231697G>A , LRG_488:g.231697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.932G>A MANE Select	ENSP00000373700.3:p.Arg311His
ENST00000389048.7:c.932G>A	ENSP00000373700.3:p.Arg311His
ENST00000618119.4:c.-200G>A	ENSP00000482733.1:n.-200G>A
NM_004304.4:c.932G>A	NP_004295.2:p.Arg311His
XR_001738688.2:n.1862G>A
NM_004304.5:c.932G>A MANE Select	NP_004295.2:p.Arg311His