Canonical Allele Identifier: CA948096595

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 1511311
• ClinVar RCV Id: RCV002043294
• dbSNP Id: rs1882618202
• gnomAD v3: 12-57581955-G-T
• gnomAD v4: 12-57581955-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581955G>T , CM000674.2:g.57581955G>T	GRCh38
NC_000012.11:g.57975738G>T , CM000674.1:g.57975738G>T	GRCh37
NC_000012.10:g.56262005G>T	NCBI36
NG_008155.1:g.36892G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+3G>T MANE Select	ENSP00000408979.2:n.2992+3G>T
ENST00000674619.1:c.3013+3G>T	ENSP00000502270.1:n.3013+3G>T
ENST00000675697.1:c.83+3G>T
ENST00000675737.1:n.399G>T
ENST00000675882.1:n.2515+3G>T
ENST00000675929.1:n.1550+3G>T
ENST00000676055.1:c.83+3G>T
ENST00000676437.1:c.17+3G>T
ENST00000676457.1:c.2887+3G>T	ENSP00000501588.1:n.2887+3G>T
ENST00000286452.5:c.2725+3G>T	ENSP00000286452.5:n.2725+3G>T
ENST00000455537.6:c.2992+3G>T	ENSP00000408979.2:n.2992+3G>T
ENST00000552227.1:n.275+3G>T
NM_004984.2:c.2992+3G>T	NP_004975.2:n.2992+3G>T
NM_001354705.1:c.2725+3G>T	NP_001341634.1:n.2725+3G>T
NM_004984.3:c.2992+3G>T	NP_004975.2:n.2992+3G>T
XR_002957324.1:n.3225+3G>T
NM_004984.4:c.2992+3G>T MANE Select	NP_004975.2:n.2992+3G>T
NM_001354705.2:c.2725+3G>T	NP_001341634.1:n.2725+3G>T