Canonical Allele Identifier: CA118521
Gene: KIF5A HGNC NCBI

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
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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
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