Canonical Allele Identifier: CA1594726

Gene: ALK

Linked Data

• ClinVar Variation Id: 470740
• ClinVar RCV Id: RCV000560261 ; RCV002258962 ; RCV003325492
• dbSNP Id: rs769910087
• ExAC: 2:29606696 C / T
• gnomAD v2: 2-29606696-C-T
• gnomAD v3: 2-29383830-C-T
• gnomAD v4: 2-29383830-C-T
• COSMIC: COSM1172867
• MyVariant Identifiers: chr2:g.29606696C>T (hg19) ; chr2:g.29383830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29383830C>T , CM000664.2:g.29383830C>T	GRCh38
NC_000002.11:g.29606696C>T , CM000664.1:g.29606696C>T	GRCh37
NC_000002.10:g.29460200C>T	NCBI36
NG_009445.1:g.542737G>A , LRG_488:g.542737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1184G>A MANE Select	ENSP00000373700.3:p.Arg395His
ENST00000389048.7:c.1184G>A	ENSP00000373700.3:p.Arg395His
ENST00000618119.4:c.53G>A	ENSP00000482733.1:p.Arg18His
NM_004304.4:c.1184G>A	NP_004295.2:p.Arg395His
XR_001738688.2:n.2114G>A
NM_004304.5:c.1184G>A MANE Select	NP_004295.2:p.Arg395His