Canonical Allele Identifier: CA346466093

Gene: CLIP4 ALK

Linked Data

• ClinVar Variation Id: 644691
• ClinVar RCV Id: RCV000798662 ; RCV001021660
• dbSNP Id: rs1573084680
• gnomAD v4: 2-29197603-C-A
• MyVariant Identifiers: chr2:g.29420469C>A (hg19) ; chr2:g.29197603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29197603C>A , CM000664.2:g.29197603C>A	GRCh38
NC_000002.11:g.29420469C>A , CM000664.1:g.29420469C>A	GRCh37
NC_000002.10:g.29273973C>A	NCBI36
NG_009445.1:g.728964G>T , LRG_488:g.728964G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689605.1:c.*597C>A (CLIP4)	ENSP00000508948.1:n.*597C>A
ENST00000389048.8:c.4012G>T (ALK) MANE Select	ENSP00000373700.3:p.Val1338Phe
ENST00000431873.6:c.1239G>T (ALK)
ENST00000638605.1:n.889G>T (ALK)
ENST00000642122.1:c.808G>T (ALK)	ENSP00000493203.1:p.Val270Phe
ENST00000389048.7:c.4012G>T (ALK)	ENSP00000373700.3:p.Val1338Phe
ENST00000431873.5:c.892G>T (ALK)	ENSP00000414027.2:p.Val298Phe
ENST00000618119.4:c.2881G>T (ALK)	ENSP00000482733.1:p.Val961Phe
NM_004304.4:c.4012G>T (ALK)	NP_004295.2:p.Val1338Phe
NM_001353765.1:c.808G>T (ALK)	NP_001340694.1:p.Val270Phe
XM_024452778.1:c.1165G>T (ALK)	XP_024308546.1:p.Val389Phe
XM_024452779.1:c.808G>T (ALK)	XP_024308547.1:p.Val270Phe
NM_004304.5:c.4012G>T (ALK) MANE Select	NP_004295.2:p.Val1338Phe
NM_001353765.2:c.808G>T (ALK)	NP_001340694.1:p.Val270Phe