Canonical Allele Identifier: CA6652673

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2710714
• ClinVar RCV Id: RCV003589987
• dbSNP Id: rs769133499
• ExAC: 12:57962772 C / T
• gnomAD v2: 12-57962772-C-T
• gnomAD v4: 12-57568989-C-T
• COSMIC: COSM4043895
• MyVariant Identifiers: chr12:g.57962772C>T (hg19) ; chr12:g.57568989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568989C>T , CM000674.2:g.57568989C>T	GRCh38
NC_000012.11:g.57962772C>T , CM000674.1:g.57962772C>T	GRCh37
NC_000012.10:g.56249039C>T	NCBI36
NG_008155.1:g.23926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.741C>T MANE Select	ENSP00000408979.2:p.Ala247=
ENST00000674619.1:c.741C>T	ENSP00000502270.1:p.Ala247=
ENST00000676457.1:c.636C>T	ENSP00000501588.1:p.Ala212=
ENST00000286452.5:c.474C>T	ENSP00000286452.5:p.Ala158=
ENST00000455537.6:c.741C>T	ENSP00000408979.2:p.Ala247=
NM_004984.2:c.741C>T	NP_004975.2:p.Ala247=
NM_001354705.1:c.474C>T	NP_001341634.1:p.Ala158=
NM_004984.3:c.741C>T	NP_004975.2:p.Ala247=
XR_002957324.1:n.974C>T
NM_004984.4:c.741C>T MANE Select	NP_004975.2:p.Ala247=
NM_001354705.2:c.474C>T	NP_001341634.1:p.Ala158=