Canonical Allele Identifier: CA6652714

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 309936
• ClinVar RCV Id: RCV000271964 ; RCV001859851
• dbSNP Id: rs536186088
• ExAC: 12:57963199 G / C
• gnomAD v2: 12-57963199-G-C
• gnomAD v3: 12-57569416-G-C
• gnomAD v4: 12-57569416-G-C
• MyVariant Identifiers: chr12:g.57963199G>C (hg19) ; chr12:g.57569416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569416G>C , CM000674.2:g.57569416G>C	GRCh38
NC_000012.11:g.57963199G>C , CM000674.1:g.57963199G>C	GRCh37
NC_000012.10:g.56249466G>C	NCBI36
NG_008155.1:g.24353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.968+12G>C MANE Select	ENSP00000408979.2:n.968+12G>C
ENST00000674619.1:c.968+12G>C	ENSP00000502270.1:n.968+12G>C
ENST00000676081.1:n.114+12G>C
ENST00000676457.1:c.863+12G>C	ENSP00000501588.1:n.863+12G>C
ENST00000286452.5:c.701+12G>C	ENSP00000286452.5:n.701+12G>C
ENST00000455537.6:c.968+12G>C	ENSP00000408979.2:n.968+12G>C
NM_004984.2:c.968+12G>C	NP_004975.2:n.968+12G>C
NM_001354705.1:c.701+12G>C	NP_001341634.1:n.701+12G>C
NM_004984.3:c.968+12G>C	NP_004975.2:n.968+12G>C
XR_002957324.1:n.1201+12G>C
NM_004984.4:c.968+12G>C MANE Select	NP_004975.2:n.968+12G>C
NM_001354705.2:c.701+12G>C	NP_001341634.1:n.701+12G>C