Canonical Allele Identifier: CA948105199

Gene: KIF5A

Linked Data

• dbSNP Id: rs1882156082
• gnomAD v3: 12-57568938-C-T
• gnomAD v4: 12-57568938-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568938C>T , CM000674.2:g.57568938C>T	GRCh38
NC_000012.11:g.57962721C>T , CM000674.1:g.57962721C>T	GRCh37
NC_000012.10:g.56248988C>T	NCBI36
NG_008155.1:g.23875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.715-25C>T MANE Select	ENSP00000408979.2:n.715-25C>T
ENST00000674619.1:c.715-25C>T	ENSP00000502270.1:n.715-25C>T
ENST00000676457.1:c.610-25C>T	ENSP00000501588.1:n.610-25C>T
ENST00000286452.5:c.448-25C>T	ENSP00000286452.5:n.448-25C>T
ENST00000455537.6:c.715-25C>T	ENSP00000408979.2:n.715-25C>T
NM_004984.2:c.715-25C>T	NP_004975.2:n.715-25C>T
NM_001354705.1:c.448-25C>T	NP_001341634.1:n.448-25C>T
NM_004984.3:c.715-25C>T	NP_004975.2:n.715-25C>T
XR_002957324.1:n.948-25C>T
NM_004984.4:c.715-25C>T MANE Select	NP_004975.2:n.715-25C>T
NM_001354705.2:c.448-25C>T	NP_001341634.1:n.448-25C>T