Canonical Allele Identifier: CA385516641

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1345188
• ClinVar RCV Id: RCV002037097
• dbSNP Id: rs1211468940
• MyVariant Identifiers: chr12:g.57975688C>T (hg19) ; chr12:g.57581905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581905C>T , CM000674.2:g.57581905C>T	GRCh38
NC_000012.11:g.57975688C>T , CM000674.1:g.57975688C>T	GRCh37
NC_000012.10:g.56261955C>T	NCBI36
NG_008155.1:g.36842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2945C>T MANE Select	ENSP00000408979.2:p.Ser982Phe
ENST00000674619.1:c.2966C>T	ENSP00000502270.1:p.Ser989Phe
ENST00000675697.1:c.36C>T
ENST00000675737.1:n.349C>T
ENST00000675882.1:n.2468C>T
ENST00000675929.1:n.1503C>T
ENST00000676055.1:c.36C>T
ENST00000676457.1:c.2840C>T	ENSP00000501588.1:p.Ser947Phe
ENST00000286452.5:c.2678C>T	ENSP00000286452.5:p.Ser893Phe
ENST00000455537.6:c.2945C>T	ENSP00000408979.2:p.Ser982Phe
ENST00000552227.1:n.228C>T
NM_004984.2:c.2945C>T	NP_004975.2:p.Ser982Phe
NM_001354705.1:c.2678C>T	NP_001341634.1:p.Ser893Phe
NM_004984.3:c.2945C>T	NP_004975.2:p.Ser982Phe
XR_002957324.1:n.3178C>T
NM_004984.4:c.2945C>T MANE Select	NP_004975.2:p.Ser982Phe
NM_001354705.2:c.2678C>T	NP_001341634.1:p.Ser893Phe