Canonical Allele Identifier: CA6653257

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 985337
• ClinVar RCV Id: RCV001266188
• dbSNP Id: rs759169064
• ExAC: 12:57975682 C / T
• gnomAD v2: 12-57975682-C-T
• gnomAD v3: 12-57581899-C-T
• gnomAD v4: 12-57581899-C-T
• MyVariant Identifiers: chr12:g.57975682C>T (hg19) ; chr12:g.57581899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581899C>T , CM000674.2:g.57581899C>T	GRCh38
NC_000012.11:g.57975682C>T , CM000674.1:g.57975682C>T	GRCh37
NC_000012.10:g.56261949C>T	NCBI36
NG_008155.1:g.36836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2939C>T MANE Select	ENSP00000408979.2:p.Ala980Val
ENST00000674619.1:c.2960C>T	ENSP00000502270.1:p.Ala987Val
ENST00000675697.1:c.30C>T
ENST00000675737.1:n.343C>T
ENST00000675882.1:n.2462C>T
ENST00000675929.1:n.1497C>T
ENST00000676055.1:c.30C>T
ENST00000676457.1:c.2834C>T	ENSP00000501588.1:p.Ala945Val
ENST00000286452.5:c.2672C>T	ENSP00000286452.5:p.Ala891Val
ENST00000455537.6:c.2939C>T	ENSP00000408979.2:p.Ala980Val
ENST00000552227.1:n.222C>T
NM_004984.2:c.2939C>T	NP_004975.2:p.Ala980Val
NM_001354705.1:c.2672C>T	NP_001341634.1:p.Ala891Val
NM_004984.3:c.2939C>T	NP_004975.2:p.Ala980Val
XR_002957324.1:n.3172C>T
NM_004984.4:c.2939C>T MANE Select	NP_004975.2:p.Ala980Val
NM_001354705.2:c.2672C>T	NP_001341634.1:p.Ala891Val