Canonical Allele Identifier: CA6653261

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 240087
• ClinVar RCV Id: RCV000424199 ; RCV000713410 ; RCV001081669 ; RCV000625002 ; RCV001260204 ; RCV001847959
• dbSNP Id: rs113247976
• ExAC: 12:57975700 C / T
• gnomAD v2: 12-57975700-C-T
• gnomAD v3: 12-57581917-C-T
• gnomAD v4: 12-57581917-C-T
• MyVariant Identifiers: chr12:g.57975700C>T (hg19) ; chr12:g.57581917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581917C>T , CM000674.2:g.57581917C>T	GRCh38
NC_000012.11:g.57975700C>T , CM000674.1:g.57975700C>T	GRCh37
NC_000012.10:g.56261967C>T	NCBI36
NG_008155.1:g.36854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2957C>T MANE Select	ENSP00000408979.2:p.Pro986Leu
ENST00000674619.1:c.2978C>T	ENSP00000502270.1:p.Pro993Leu
ENST00000675697.1:c.48C>T
ENST00000675737.1:n.361C>T
ENST00000675882.1:n.2480C>T
ENST00000675929.1:n.1515C>T
ENST00000676055.1:c.48C>T
ENST00000676457.1:c.2852C>T	ENSP00000501588.1:p.Pro951Leu
ENST00000286452.5:c.2690C>T	ENSP00000286452.5:p.Pro897Leu
ENST00000455537.6:c.2957C>T	ENSP00000408979.2:p.Pro986Leu
ENST00000552227.1:n.240C>T
NM_004984.2:c.2957C>T	NP_004975.2:p.Pro986Leu
NM_001354705.1:c.2690C>T	NP_001341634.1:p.Pro897Leu
NM_004984.3:c.2957C>T	NP_004975.2:p.Pro986Leu
XR_002957324.1:n.3190C>T
NM_004984.4:c.2957C>T MANE Select	NP_004975.2:p.Pro986Leu
NM_001354705.2:c.2690C>T	NP_001341634.1:p.Pro897Leu