Canonical Allele Identifier: CA690303090

Gene: KIF5A

Linked Data

• dbSNP Id: rs1198031207
• gnomAD v3: 12-57567821-T-G
• gnomAD v4: 12-57567821-T-G
• MyVariant Identifiers: chr12:g.57961604T>G (hg19) ; chr12:g.57567821T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567821T>G , CM000674.2:g.57567821T>G	GRCh38
NC_000012.11:g.57961604T>G , CM000674.1:g.57961604T>G	GRCh37
NC_000012.10:g.56247871T>G	NCBI36
NG_008155.1:g.22758T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+203T>G MANE Select	ENSP00000408979.2:n.714+203T>G
ENST00000674619.1:c.714+203T>G	ENSP00000502270.1:n.714+203T>G
ENST00000676457.1:c.609+203T>G	ENSP00000501588.1:n.609+203T>G
ENST00000286452.5:c.447+203T>G	ENSP00000286452.5:n.447+203T>G
ENST00000455537.6:c.714+203T>G	ENSP00000408979.2:n.714+203T>G
NM_004984.2:c.714+203T>G	NP_004975.2:n.714+203T>G
NM_001354705.1:c.447+203T>G	NP_001341634.1:n.447+203T>G
NM_004984.3:c.714+203T>G	NP_004975.2:n.714+203T>G
XR_002957324.1:n.947+203T>G
NM_004984.4:c.714+203T>G MANE Select	NP_004975.2:n.714+203T>G
NM_001354705.2:c.447+203T>G	NP_001341634.1:n.447+203T>G