Canonical Allele Identifier: CA480266245

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2143976
• ClinVar RCV Id: RCV003062849
• dbSNP Id: rs1369446897
• gnomAD v2: 12-57975695-C-T
• gnomAD v3: 12-57581912-C-T
• gnomAD v4: 12-57581912-C-T
• COSMIC: COSM942129
• MyVariant Identifiers: chr12:g.57975695C>T (hg19) ; chr12:g.57581912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581912C>T , CM000674.2:g.57581912C>T	GRCh38
NC_000012.11:g.57975695C>T , CM000674.1:g.57975695C>T	GRCh37
NC_000012.10:g.56261962C>T	NCBI36
NG_008155.1:g.36849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2952C>T MANE Select	ENSP00000408979.2:p.Gly984=
ENST00000674619.1:c.2973C>T	ENSP00000502270.1:p.Gly991=
ENST00000675697.1:c.43C>T
ENST00000675737.1:n.356C>T
ENST00000675882.1:n.2475C>T
ENST00000675929.1:n.1510C>T
ENST00000676055.1:c.43C>T
ENST00000676457.1:c.2847C>T	ENSP00000501588.1:p.Gly949=
ENST00000286452.5:c.2685C>T	ENSP00000286452.5:p.Gly895=
ENST00000455537.6:c.2952C>T	ENSP00000408979.2:p.Gly984=
ENST00000552227.1:n.235C>T
NM_004984.2:c.2952C>T	NP_004975.2:p.Gly984=
NM_001354705.1:c.2685C>T	NP_001341634.1:p.Gly895=
NM_004984.3:c.2952C>T	NP_004975.2:p.Gly984=
XR_002957324.1:n.3185C>T
NM_004984.4:c.2952C>T MANE Select	NP_004975.2:p.Gly984=
NM_001354705.2:c.2685C>T	NP_001341634.1:p.Gly895=