Canonical Allele Identifier: CA480264020

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2899277
• ClinVar RCV Id: RCV003750685
• dbSNP Id: rs1882158792
• gnomAD v3: 12-57569023-C-T
• gnomAD v4: 12-57569023-C-T
• MyVariant Identifiers: chr12:g.57962806C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569023C>T , CM000674.2:g.57569023C>T	GRCh38
NC_000012.11:g.57962806C>T , CM000674.1:g.57962806C>T	GRCh37
NC_000012.10:g.56249073C>T	NCBI36
NG_008155.1:g.23960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.775C>T MANE Select	ENSP00000408979.2:p.Leu259=
ENST00000674619.1:c.775C>T	ENSP00000502270.1:p.Leu259=
ENST00000676457.1:c.670C>T	ENSP00000501588.1:p.Leu224=
ENST00000286452.5:c.508C>T	ENSP00000286452.5:p.Leu170=
ENST00000455537.6:c.775C>T	ENSP00000408979.2:p.Leu259=
NM_004984.2:c.775C>T	NP_004975.2:p.Leu259=
NM_001354705.1:c.508C>T	NP_001341634.1:p.Leu170=
NM_004984.3:c.775C>T	NP_004975.2:p.Leu259=
XR_002957324.1:n.1008C>T
NM_004984.4:c.775C>T MANE Select	NP_004975.2:p.Leu259=
NM_001354705.2:c.508C>T	NP_001341634.1:p.Leu170=