Canonical Allele Identifier: CA948104640

Gene: KIF5A

Linked Data

• dbSNP Id: rs1882114253
• gnomAD v3: 12-57567801-C-T
• gnomAD v4: 12-57567801-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567801C>T , CM000674.2:g.57567801C>T	GRCh38
NC_000012.11:g.57961584C>T , CM000674.1:g.57961584C>T	GRCh37
NC_000012.10:g.56247851C>T	NCBI36
NG_008155.1:g.22738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+183C>T MANE Select	ENSP00000408979.2:n.714+183C>T
ENST00000674619.1:c.714+183C>T	ENSP00000502270.1:n.714+183C>T
ENST00000676457.1:c.609+183C>T	ENSP00000501588.1:n.609+183C>T
ENST00000286452.5:c.447+183C>T	ENSP00000286452.5:n.447+183C>T
ENST00000455537.6:c.714+183C>T	ENSP00000408979.2:n.714+183C>T
NM_004984.2:c.714+183C>T	NP_004975.2:n.714+183C>T
NM_001354705.1:c.447+183C>T	NP_001341634.1:n.447+183C>T
NM_004984.3:c.714+183C>T	NP_004975.2:n.714+183C>T
XR_002957324.1:n.947+183C>T
NM_004984.4:c.714+183C>T MANE Select	NP_004975.2:n.714+183C>T
NM_001354705.2:c.447+183C>T	NP_001341634.1:n.447+183C>T