Canonical Allele Identifier: CA346462439

Gene: CLIP4 ALK

Linked Data

• ClinVar Variation Id: 1385974
• ClinVar RCV Id: RCV001889095
• dbSNP Id: rs752317227
• gnomAD v4: 2-29193730-C-A
• MyVariant Identifiers: chr2:g.29416596C>A (hg19) ; chr2:g.29193730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29193730C>A , CM000664.2:g.29193730C>A	GRCh38
NC_000002.11:g.29416596C>A , CM000664.1:g.29416596C>A	GRCh37
NC_000002.10:g.29270100C>A	NCBI36
NG_009445.1:g.732837G>T , LRG_488:g.732837G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689605.1:c.1923-3198C>A (CLIP4)	ENSP00000508948.1:n.1923-3198C>A
ENST00000389048.8:c.4357G>T (ALK) MANE Select	ENSP00000373700.3:p.Ala1453Ser
ENST00000431873.6:c.1584G>T (ALK)
ENST00000638605.1:n.1234G>T (ALK)
ENST00000642122.1:c.1153G>T (ALK)	ENSP00000493203.1:p.Ala385Ser
ENST00000389048.7:c.4357G>T (ALK)	ENSP00000373700.3:p.Ala1453Ser
ENST00000431873.5:c.1237G>T (ALK)	ENSP00000414027.2:p.Ala413Ser
ENST00000618119.4:c.3226G>T (ALK)	ENSP00000482733.1:p.Ala1076Ser
NM_004304.4:c.4357G>T (ALK)	NP_004295.2:p.Ala1453Ser
NM_001353765.1:c.1153G>T (ALK)	NP_001340694.1:p.Ala385Ser
XM_024452778.1:c.1510G>T (ALK)	XP_024308546.1:p.Ala504Ser
XM_024452779.1:c.1153G>T (ALK)	XP_024308547.1:p.Ala385Ser
NM_004304.5:c.4357G>T (ALK) MANE Select	NP_004295.2:p.Ala1453Ser
NM_001353765.2:c.1153G>T (ALK)	NP_001340694.1:p.Ala385Ser