Canonical Allele Identifier: CA6652946

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 309941
• ClinVar RCV Id: RCV000319934 ; RCV001306129 ; RCV001812799 ; RCV004549673
• dbSNP Id: rs370644634
• ExAC: 12:57969449 G / A
• gnomAD v2: 12-57969449-G-A
• gnomAD v3: 12-57575666-G-A
• gnomAD v4: 12-57575666-G-A
• MyVariant Identifiers: chr12:g.57969449G>A (hg19) ; chr12:g.57575666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57575666G>A , CM000674.2:g.57575666G>A	GRCh38
NC_000012.11:g.57969449G>A , CM000674.1:g.57969449G>A	GRCh37
NC_000012.10:g.56255716G>A	NCBI36
NG_008155.1:g.30603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.1932G>A MANE Select	ENSP00000408979.2:p.Thr644=
ENST00000674619.1:c.1932G>A	ENSP00000502270.1:p.Thr644=
ENST00000675299.1:c.236+347G>A	ENSP00000501888.1:n.236+347G>A
ENST00000675882.1:n.919G>A
ENST00000675929.1:n.490G>A
ENST00000675984.1:n.1174G>A
ENST00000676081.1:n.1078G>A
ENST00000676457.1:c.1827G>A	ENSP00000501588.1:p.Thr609=
ENST00000286452.5:c.1665G>A	ENSP00000286452.5:p.Thr555=
ENST00000455537.6:c.1932G>A	ENSP00000408979.2:p.Thr644=
NM_004984.2:c.1932G>A	NP_004975.2:p.Thr644=
NM_001354705.1:c.1665G>A	NP_001341634.1:p.Thr555=
NM_004984.3:c.1932G>A	NP_004975.2:p.Thr644=
XR_002957324.1:n.2165G>A
NM_004984.4:c.1932G>A MANE Select	NP_004975.2:p.Thr644=
NM_001354705.2:c.1665G>A	NP_001341634.1:p.Thr555=