Canonical Allele Identifier: CA130088

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 37130
• ClinVar RCV Id: RCV000030761 ; RCV000515919 ; RCV000516550 ; RCV001061322 ; RCV001268862 ; RCV002051649
• dbSNP Id: rs387907288
• gnomAD v4: 12-57569275-G-A
• COSMIC: COSM4043896
• MyVariant Identifiers: chr12:g.57963058G>A (hg19) ; chr12:g.57569275G>A (hg38)
• PubMed: PMID:18853458 ; PMID:25008398 ; PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569275G>A , CM000674.2:g.57569275G>A	GRCh38
NC_000012.11:g.57963058G>A , CM000674.1:g.57963058G>A	GRCh37
NC_000012.10:g.56249325G>A	NCBI36
NG_008155.1:g.24212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.839G>A MANE Select	ENSP00000408979.2:p.Arg280His
ENST00000674619.1:c.839G>A	ENSP00000502270.1:p.Arg280His
ENST00000676457.1:c.734G>A	ENSP00000501588.1:p.Arg245His
ENST00000286452.5:c.572G>A	ENSP00000286452.5:p.Arg191His
ENST00000455537.6:c.839G>A	ENSP00000408979.2:p.Arg280His
NM_004984.2:c.839G>A	NP_004975.2:p.Arg280His
NM_001354705.1:c.572G>A	NP_001341634.1:p.Arg191His
NM_004984.3:c.839G>A	NP_004975.2:p.Arg280His
XR_002957324.1:n.1072G>A
NM_004984.4:c.839G>A MANE Select	NP_004975.2:p.Arg280His
NM_001354705.2:c.572G>A	NP_001341634.1:p.Arg191His