Canonical Allele Identifier: CA174974
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 162100
ClinVar RCV Id: RCV000149510
dbSNP Id: rs690016545

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567598G>A , CM000674.2:g.57567598G>A GRCh38
NC_000012.11:g.57961381G>A , CM000674.1:g.57961381G>A GRCh37
NC_000012.10:g.56247648G>A NCBI36
NG_008155.1:g.22535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.694G>A MANE Select ENSP00000408979.2:p.Asp232Asn
ENST00000674619.1:c.694G>A ENSP00000502270.1:p.Asp232Asn
ENST00000676457.1:c.589G>A ENSP00000501588.1:p.Asp197Asn
ENST00000286452.5:c.427G>A ENSP00000286452.5:p.Asp143Asn
ENST00000455537.6:c.694G>A ENSP00000408979.2:p.Asp232Asn
NM_004984.2:c.694G>A NP_004975.2:p.Asp232Asn
NM_001354705.1:c.427G>A NP_001341634.1:p.Asp143Asn
NM_004984.3:c.694G>A NP_004975.2:p.Asp232Asn
XR_002957324.1:n.927G>A
NM_004984.4:c.694G>A MANE Select NP_004975.2:p.Asp232Asn
NM_001354705.2:c.427G>A NP_001341634.1:p.Asp143Asn