Canonical Allele Identifier: CA385499769

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57568962-G-T
• COSMIC: COSM5683055
• MyVariant Identifiers: chr12:g.57962745G>T (hg19) ; chr12:g.57568962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568962G>T , CM000674.2:g.57568962G>T	GRCh38
NC_000012.11:g.57962745G>T , CM000674.1:g.57962745G>T	GRCh37
NC_000012.10:g.56249012G>T	NCBI36
NG_008155.1:g.23899G>T

Transcript Alleles

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