Canonical Allele Identifier: CA1139662758

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 883204
• ClinVar RCV Id: RCV001113421
• dbSNP Id: rs1882156694
• gnomAD v4: 12-57568954-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568954C>A , CM000674.2:g.57568954C>A	GRCh38
NC_000012.11:g.57962737C>A , CM000674.1:g.57962737C>A	GRCh37
NC_000012.10:g.56249004C>A	NCBI36
NG_008155.1:g.23891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.715-9C>A MANE Select	ENSP00000408979.2:n.715-9C>A
ENST00000674619.1:c.715-9C>A	ENSP00000502270.1:n.715-9C>A
ENST00000676457.1:c.610-9C>A	ENSP00000501588.1:n.610-9C>A
ENST00000286452.5:c.448-9C>A	ENSP00000286452.5:n.448-9C>A
ENST00000455537.6:c.715-9C>A	ENSP00000408979.2:n.715-9C>A
NM_004984.2:c.715-9C>A	NP_004975.2:n.715-9C>A
NM_001354705.1:c.448-9C>A	NP_001341634.1:n.448-9C>A
NM_004984.3:c.715-9C>A	NP_004975.2:n.715-9C>A
XR_002957324.1:n.948-9C>A
NM_004984.4:c.715-9C>A MANE Select	NP_004975.2:n.715-9C>A
NM_001354705.2:c.448-9C>A	NP_001341634.1:n.448-9C>A