Canonical Allele Identifier: CA948094442

Gene: KIF5A

Linked Data

• dbSNP Id: rs1882373801
• gnomAD v3: 12-57574914-A-G
• gnomAD v4: 12-57574914-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57574914A>G , CM000674.2:g.57574914A>G	GRCh38
NC_000012.11:g.57968697A>G , CM000674.1:g.57968697A>G	GRCh37
NC_000012.10:g.56254964A>G	NCBI36
NG_008155.1:g.29851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.1717-170A>G MANE Select	ENSP00000408979.2:n.1717-170A>G
ENST00000674619.1:c.1717-170A>G	ENSP00000502270.1:n.1717-170A>G
ENST00000675629.1:c.46-170A>G	ENSP00000502531.1:n.46-170A>G
ENST00000675882.1:n.704-170A>G
ENST00000675929.1:n.275-170A>G
ENST00000675984.1:n.959-170A>G
ENST00000676081.1:n.863-170A>G
ENST00000676352.1:c.208-170A>G	ENSP00000501978.1:n.208-170A>G
ENST00000676457.1:c.1612-170A>G	ENSP00000501588.1:n.1612-170A>G
ENST00000286452.5:c.1450-170A>G	ENSP00000286452.5:n.1450-170A>G
ENST00000455537.6:c.1717-170A>G	ENSP00000408979.2:n.1717-170A>G
NM_004984.2:c.1717-170A>G	NP_004975.2:n.1717-170A>G
NM_001354705.1:c.1450-170A>G	NP_001341634.1:n.1450-170A>G
NM_004984.3:c.1717-170A>G	NP_004975.2:n.1717-170A>G
XR_002957324.1:n.1950-170A>G
NM_004984.4:c.1717-170A>G MANE Select	NP_004975.2:n.1717-170A>G
NM_001354705.2:c.1450-170A>G	NP_001341634.1:n.1450-170A>G