Canonical Allele Identifier: CA480266250

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1645396
• ClinVar RCV Id: RCV002148505
• dbSNP Id: rs1236499166
• gnomAD v2: 12-57975701-C-T
• gnomAD v4: 12-57581918-C-T
• MyVariant Identifiers: chr12:g.57975701C>T (hg19) ; chr12:g.57581918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581918C>T , CM000674.2:g.57581918C>T	GRCh38
NC_000012.11:g.57975701C>T , CM000674.1:g.57975701C>T	GRCh37
NC_000012.10:g.56261968C>T	NCBI36
NG_008155.1:g.36855C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.2958C>T MANE Select	ENSP00000408979.2:p.Pro986=
ENST00000674619.1:c.2979C>T	ENSP00000502270.1:p.Pro993=
ENST00000675697.1:c.49C>T
ENST00000675737.1:n.362C>T
ENST00000675882.1:n.2481C>T
ENST00000675929.1:n.1516C>T
ENST00000676055.1:c.49C>T
ENST00000676457.1:c.2853C>T	ENSP00000501588.1:p.Pro951=
ENST00000286452.5:c.2691C>T	ENSP00000286452.5:p.Pro897=
ENST00000455537.6:c.2958C>T	ENSP00000408979.2:p.Pro986=
ENST00000552227.1:n.241C>T
NM_004984.2:c.2958C>T	NP_004975.2:p.Pro986=
NM_001354705.1:c.2691C>T	NP_001341634.1:p.Pro897=
NM_004984.3:c.2958C>T	NP_004975.2:p.Pro986=
XR_002957324.1:n.3191C>T
NM_004984.4:c.2958C>T MANE Select	NP_004975.2:p.Pro986=
NM_001354705.2:c.2691C>T	NP_001341634.1:p.Pro897=