Canonical Allele Identifier: CA948105229

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2192316
• ClinVar RCV Id: RCV002643702
• dbSNP Id: rs1882160968
• gnomAD v3: 12-57569082-G-A
• gnomAD v4: 12-57569082-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569082G>A , CM000674.2:g.57569082G>A	GRCh38
NC_000012.11:g.57962865G>A , CM000674.1:g.57962865G>A	GRCh37
NC_000012.10:g.56249132G>A	NCBI36
NG_008155.1:g.24019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.819+15G>A MANE Select	ENSP00000408979.2:n.819+15G>A
ENST00000674619.1:c.819+15G>A	ENSP00000502270.1:n.819+15G>A
ENST00000676457.1:c.714+15G>A	ENSP00000501588.1:n.714+15G>A
ENST00000286452.5:c.552+15G>A	ENSP00000286452.5:n.552+15G>A
ENST00000455537.6:c.819+15G>A	ENSP00000408979.2:n.819+15G>A
NM_004984.2:c.819+15G>A	NP_004975.2:n.819+15G>A
NM_001354705.1:c.552+15G>A	NP_001341634.1:n.552+15G>A
NM_004984.3:c.819+15G>A	NP_004975.2:n.819+15G>A
XR_002957324.1:n.1052+15G>A
NM_004984.4:c.819+15G>A MANE Select	NP_004975.2:n.819+15G>A
NM_001354705.2:c.552+15G>A	NP_001341634.1:n.552+15G>A