Canonical Allele Identifier: CA605315756

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 504476
• ClinVar RCV Id: RCV000598707 ; RCV003750808
• dbSNP Id: rs1402429085
• gnomAD v2: 12-57976382-C-T
• MyVariant Identifiers: chr12:g.57976382C>T (hg19) ; chr12:g.57582599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582599C>T , CM000674.2:g.57582599C>T	GRCh38
NC_000012.11:g.57976382C>T , CM000674.1:g.57976382C>T	GRCh37
NC_000012.10:g.56262649C>T	NCBI36
NG_008155.1:g.37536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2993-3C>T MANE Select	ENSP00000408979.2:n.2993-3C>T
ENST00000674619.1:c.3014-3C>T	ENSP00000502270.1:n.3014-3C>T
ENST00000675697.1:c.84-502C>T
ENST00000675737.1:n.1043C>T
ENST00000675882.1:n.2516-3C>T
ENST00000675929.1:n.1551-3C>T
ENST00000676055.1:c.84-15C>T
ENST00000676437.1:c.18-3C>T
ENST00000676457.1:c.2888-3C>T	ENSP00000501588.1:n.2888-3C>T
ENST00000286452.5:c.2726-3C>T	ENSP00000286452.5:n.2726-3C>T
ENST00000455537.6:c.2993-3C>T	ENSP00000408979.2:n.2993-3C>T
ENST00000552227.1:n.276-3C>T
NM_004984.2:c.2993-3C>T	NP_004975.2:n.2993-3C>T
NM_001354705.1:c.2726-3C>T	NP_001341634.1:n.2726-3C>T
NM_004984.3:c.2993-3C>T	NP_004975.2:n.2993-3C>T
XR_002957324.1:n.3226-3C>T
NM_004984.4:c.2993-3C>T MANE Select	NP_004975.2:n.2993-3C>T
NM_001354705.2:c.2726-3C>T	NP_001341634.1:n.2726-3C>T