Canonical Allele Identifier: CA6653254

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1466022
• ClinVar RCV Id: RCV001979508
• dbSNP Id: rs146406013
• ExAC: 12:57975669 A / G
• gnomAD v2: 12-57975669-A-G
• gnomAD v3: 12-57581886-A-G
• gnomAD v4: 12-57581886-A-G
• MyVariant Identifiers: chr12:g.57975669A>G (hg19) ; chr12:g.57581886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581886A>G , CM000674.2:g.57581886A>G	GRCh38
NC_000012.11:g.57975669A>G , CM000674.1:g.57975669A>G	GRCh37
NC_000012.10:g.56261936A>G	NCBI36
NG_008155.1:g.36823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2926A>G MANE Select	ENSP00000408979.2:p.Thr976Ala
ENST00000674619.1:c.2947A>G	ENSP00000502270.1:p.Thr983Ala
ENST00000675697.1:c.17A>G
ENST00000675737.1:n.330A>G
ENST00000675882.1:n.2449A>G
ENST00000675929.1:n.1484A>G
ENST00000676055.1:c.17A>G
ENST00000676457.1:c.2821A>G	ENSP00000501588.1:p.Thr941Ala
ENST00000286452.5:c.2659A>G	ENSP00000286452.5:p.Thr887Ala
ENST00000455537.6:c.2926A>G	ENSP00000408979.2:p.Thr976Ala
ENST00000552227.1:n.209A>G
NM_004984.2:c.2926A>G	NP_004975.2:p.Thr976Ala
NM_001354705.1:c.2659A>G	NP_001341634.1:p.Thr887Ala
NM_004984.3:c.2926A>G	NP_004975.2:p.Thr976Ala
XR_002957324.1:n.3159A>G
NM_004984.4:c.2926A>G MANE Select	NP_004975.2:p.Thr976Ala
NM_001354705.2:c.2659A>G	NP_001341634.1:p.Thr887Ala