Canonical Allele Identifier: CA6653253

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2902381
• ClinVar RCV Id: RCV003750753
• dbSNP Id: rs776798327
• ExAC: 12:57975662 C / G
• gnomAD v2: 12-57975662-C-G
• gnomAD v3: 12-57581879-C-G
• gnomAD v4: 12-57581879-C-G
• MyVariant Identifiers: chr12:g.57975662C>G (hg19) ; chr12:g.57581879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581879C>G , CM000674.2:g.57581879C>G	GRCh38
NC_000012.11:g.57975662C>G , CM000674.1:g.57975662C>G	GRCh37
NC_000012.10:g.56261929C>G	NCBI36
NG_008155.1:g.36816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2919C>G MANE Select	ENSP00000408979.2:p.Asn973Lys
ENST00000674619.1:c.2940C>G	ENSP00000502270.1:p.Asn980Lys
ENST00000675697.1:c.10C>G
ENST00000675737.1:n.323C>G
ENST00000675882.1:n.2442C>G
ENST00000675929.1:n.1477C>G
ENST00000676055.1:c.10C>G
ENST00000676457.1:c.2814C>G	ENSP00000501588.1:p.Asn938Lys
ENST00000286452.5:c.2652C>G	ENSP00000286452.5:p.Asn884Lys
ENST00000455537.6:c.2919C>G	ENSP00000408979.2:p.Asn973Lys
ENST00000552227.1:n.202C>G
NM_004984.2:c.2919C>G	NP_004975.2:p.Asn973Lys
NM_001354705.1:c.2652C>G	NP_001341634.1:p.Asn884Lys
NM_004984.3:c.2919C>G	NP_004975.2:p.Asn973Lys
XR_002957324.1:n.3152C>G
NM_004984.4:c.2919C>G MANE Select	NP_004975.2:p.Asn973Lys
NM_001354705.2:c.2652C>G	NP_001341634.1:p.Asn884Lys