Canonical Allele Identifier: CA385500637

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 940374
• ClinVar RCV Id: RCV001209948 ; RCV001847190
• dbSNP Id: rs761812789
• gnomAD v2: 12-57963091-C-T
• gnomAD v4: 12-57569308-C-T
• COSMIC: COSM346362
• MyVariant Identifiers: chr12:g.57963091C>T (hg19) ; chr12:g.57569308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569308C>T , CM000674.2:g.57569308C>T	GRCh38
NC_000012.11:g.57963091C>T , CM000674.1:g.57963091C>T	GRCh37
NC_000012.10:g.56249358C>T	NCBI36
NG_008155.1:g.24245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.872C>T MANE Select	ENSP00000408979.2:p.Ser291Phe
ENST00000674619.1:c.872C>T	ENSP00000502270.1:p.Ser291Phe
ENST00000676081.1:n.18C>T
ENST00000676457.1:c.767C>T	ENSP00000501588.1:p.Ser256Phe
ENST00000286452.5:c.605C>T	ENSP00000286452.5:p.Ser202Phe
ENST00000455537.6:c.872C>T	ENSP00000408979.2:p.Ser291Phe
NM_004984.2:c.872C>T	NP_004975.2:p.Ser291Phe
NM_001354705.1:c.605C>T	NP_001341634.1:p.Ser202Phe
NM_004984.3:c.872C>T	NP_004975.2:p.Ser291Phe
XR_002957324.1:n.1105C>T
NM_004984.4:c.872C>T MANE Select	NP_004975.2:p.Ser291Phe
NM_001354705.2:c.605C>T	NP_001341634.1:p.Ser202Phe