Canonical Allele Identifier: CA385517122

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 504478
• ClinVar RCV Id: RCV000599583 ; RCV001854130
• dbSNP Id: rs1555179091
• gnomAD v3: 12-57582630-G-A
• gnomAD v4: 12-57582630-G-A
• MyVariant Identifiers: chr12:g.57976413G>A (hg19) ; chr12:g.57582630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582630G>A , CM000674.2:g.57582630G>A	GRCh38
NC_000012.11:g.57976413G>A , CM000674.1:g.57976413G>A	GRCh37
NC_000012.10:g.56262680G>A	NCBI36
NG_008155.1:g.37567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.3020+1G>A MANE Select	ENSP00000408979.2:n.3020+1G>A
ENST00000674619.1:c.3041+1G>A	ENSP00000502270.1:n.3041+1G>A
ENST00000675201.1:n.28+1G>A
ENST00000675697.1:c.84-471G>A
ENST00000675737.1:n.1074G>A
ENST00000675866.1:c.28+1G>A
ENST00000675882.1:n.2544G>A
ENST00000675929.1:n.1579G>A
ENST00000676265.1:n.28+1G>A
ENST00000676437.1:c.46G>A
ENST00000676457.1:c.2915+1G>A	ENSP00000501588.1:n.2915+1G>A
ENST00000286452.5:c.2753+1G>A	ENSP00000286452.5:n.2753+1G>A
ENST00000455537.6:c.3020+1G>A	ENSP00000408979.2:n.3020+1G>A
ENST00000552227.1:n.304G>A
NM_004984.2:c.3020+1G>A	NP_004975.2:n.3020+1G>A
NM_001354705.1:c.2753+1G>A	NP_001341634.1:n.2753+1G>A
NM_004984.3:c.3020+1G>A	NP_004975.2:n.3020+1G>A
XR_002957324.1:n.3254G>A
NM_004984.4:c.3020+1G>A MANE Select	NP_004975.2:n.3020+1G>A
NM_001354705.2:c.2753+1G>A	NP_001341634.1:n.2753+1G>A