Canonical Allele Identifier: CA948104683

Gene: KIF5A

Linked Data

• dbSNP Id: rs1882116143
• gnomAD v3: 12-57567844-T-C
• gnomAD v4: 12-57567844-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567844T>C , CM000674.2:g.57567844T>C	GRCh38
NC_000012.11:g.57961627T>C , CM000674.1:g.57961627T>C	GRCh37
NC_000012.10:g.56247894T>C	NCBI36
NG_008155.1:g.22781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+226T>C MANE Select	ENSP00000408979.2:n.714+226T>C
ENST00000674619.1:c.714+226T>C	ENSP00000502270.1:n.714+226T>C
ENST00000676457.1:c.609+226T>C	ENSP00000501588.1:n.609+226T>C
ENST00000286452.5:c.447+226T>C	ENSP00000286452.5:n.447+226T>C
ENST00000455537.6:c.714+226T>C	ENSP00000408979.2:n.714+226T>C
NM_004984.2:c.714+226T>C	NP_004975.2:n.714+226T>C
NM_001354705.1:c.447+226T>C	NP_001341634.1:n.447+226T>C
NM_004984.3:c.714+226T>C	NP_004975.2:n.714+226T>C
XR_002957324.1:n.947+226T>C
NM_004984.4:c.714+226T>C MANE Select	NP_004975.2:n.714+226T>C
NM_001354705.2:c.447+226T>C	NP_001341634.1:n.447+226T>C