Canonical Allele Identifier: CA237791297

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 682856
• ClinVar RCV Id: RCV000843002
• dbSNP Id: rs775247
• gnomAD v2: 12-57975570-A-G
• gnomAD v3: 12-57581787-A-G
• gnomAD v4: 12-57581787-A-G
• MyVariant Identifiers: chr12:g.57975570A>G (hg19) ; chr12:g.57581787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581787A>G , CM000674.2:g.57581787A>G	GRCh38
NC_000012.11:g.57975570A>G , CM000674.1:g.57975570A>G	GRCh37
NC_000012.10:g.56261837A>G	NCBI36
NG_008155.1:g.36724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-83A>G MANE Select	ENSP00000408979.2:n.2910-83A>G
ENST00000674619.1:c.2931-83A>G	ENSP00000502270.1:n.2931-83A>G
ENST00000675737.1:n.314-83A>G
ENST00000675882.1:n.2350A>G
ENST00000675929.1:n.1468-83A>G
ENST00000676457.1:c.2805-83A>G	ENSP00000501588.1:n.2805-83A>G
ENST00000286452.5:c.2643-83A>G	ENSP00000286452.5:n.2643-83A>G
ENST00000455537.6:c.2910-83A>G	ENSP00000408979.2:n.2910-83A>G
ENST00000552227.1:n.110A>G
NM_004984.2:c.2910-83A>G	NP_004975.2:n.2910-83A>G
NM_001354705.1:c.2643-83A>G	NP_001341634.1:n.2643-83A>G
NM_004984.3:c.2910-83A>G	NP_004975.2:n.2910-83A>G
XR_002957324.1:n.3143-83A>G
NM_004984.4:c.2910-83A>G MANE Select	NP_004975.2:n.2910-83A>G
NM_001354705.2:c.2643-83A>G	NP_001341634.1:n.2643-83A>G