Canonical Allele Identifier: CA6653255

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 309950
• ClinVar RCV Id: RCV000391548 ; RCV000994942 ; RCV001039954 ; RCV001260220 ; RCV001848094
• dbSNP Id: rs139801016
• ExAC: 12:57975670 C / T
• gnomAD v2: 12-57975670-C-T
• gnomAD v3: 12-57581887-C-T
• gnomAD v4: 12-57581887-C-T
• MyVariant Identifiers: chr12:g.57975670C>T (hg19) ; chr12:g.57581887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581887C>T , CM000674.2:g.57581887C>T	GRCh38
NC_000012.11:g.57975670C>T , CM000674.1:g.57975670C>T	GRCh37
NC_000012.10:g.56261937C>T	NCBI36
NG_008155.1:g.36824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2927C>T MANE Select	ENSP00000408979.2:p.Thr976Ile
ENST00000674619.1:c.2948C>T	ENSP00000502270.1:p.Thr983Ile
ENST00000675697.1:c.18C>T
ENST00000675737.1:n.331C>T
ENST00000675882.1:n.2450C>T
ENST00000675929.1:n.1485C>T
ENST00000676055.1:c.18C>T
ENST00000676457.1:c.2822C>T	ENSP00000501588.1:p.Thr941Ile
ENST00000286452.5:c.2660C>T	ENSP00000286452.5:p.Thr887Ile
ENST00000455537.6:c.2927C>T	ENSP00000408979.2:p.Thr976Ile
ENST00000552227.1:n.210C>T
NM_004984.2:c.2927C>T	NP_004975.2:p.Thr976Ile
NM_001354705.1:c.2660C>T	NP_001341634.1:p.Thr887Ile
NM_004984.3:c.2927C>T	NP_004975.2:p.Thr976Ile
XR_002957324.1:n.3160C>T
NM_004984.4:c.2927C>T MANE Select	NP_004975.2:p.Thr976Ile
NM_001354705.2:c.2660C>T	NP_001341634.1:p.Thr887Ile