Canonical Allele Identifier: CA118521

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 6807
• ClinVar RCV Id: RCV000007209 ; RCV000993045 ; RCV001387529 ; RCV001847593
• dbSNP Id: rs121434442
• MyVariant Identifiers: chr12:g.57963057C>T (hg19) ; chr12:g.57569274C>T (hg38)
• PubMed: PMID:15452312 ; PMID:18853458 ; PMID:25008398

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569274C>T , CM000674.2:g.57569274C>T	GRCh38
NC_000012.11:g.57963057C>T , CM000674.1:g.57963057C>T	GRCh37
NC_000012.10:g.56249324C>T	NCBI36
NG_008155.1:g.24211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.838C>T MANE Select	ENSP00000408979.2:p.Arg280Cys
ENST00000674619.1:c.838C>T	ENSP00000502270.1:p.Arg280Cys
ENST00000676457.1:c.733C>T	ENSP00000501588.1:p.Arg245Cys
ENST00000286452.5:c.571C>T	ENSP00000286452.5:p.Arg191Cys
ENST00000455537.6:c.838C>T	ENSP00000408979.2:p.Arg280Cys
NM_004984.2:c.838C>T	NP_004975.2:p.Arg280Cys
NM_001354705.1:c.571C>T	NP_001341634.1:p.Arg191Cys
NM_004984.3:c.838C>T	NP_004975.2:p.Arg280Cys
XR_002957324.1:n.1071C>T
NM_004984.4:c.838C>T MANE Select	NP_004975.2:p.Arg280Cys
NM_001354705.2:c.571C>T	NP_001341634.1:p.Arg191Cys