Canonical Allele Identifier: CA690311938

Gene: KIF5A

Linked Data

• dbSNP Id: rs1440531866
• gnomAD v3: 12-57582191-C-T
• gnomAD v4: 12-57582191-C-T
• MyVariant Identifiers: chr12:g.57975974C>T (hg19) ; chr12:g.57582191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582191C>T , CM000674.2:g.57582191C>T	GRCh38
NC_000012.11:g.57975974C>T , CM000674.1:g.57975974C>T	GRCh37
NC_000012.10:g.56262241C>T	NCBI36
NG_008155.1:g.37128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+239C>T MANE Select	ENSP00000408979.2:n.2992+239C>T
ENST00000674619.1:c.3013+239C>T	ENSP00000502270.1:n.3013+239C>T
ENST00000675697.1:c.83+239C>T
ENST00000675737.1:n.635C>T
ENST00000675882.1:n.2515+239C>T
ENST00000675929.1:n.1550+239C>T
ENST00000676055.1:c.83+239C>T
ENST00000676437.1:c.17+239C>T
ENST00000676457.1:c.2887+239C>T	ENSP00000501588.1:n.2887+239C>T
ENST00000286452.5:c.2725+239C>T	ENSP00000286452.5:n.2725+239C>T
ENST00000455537.6:c.2992+239C>T	ENSP00000408979.2:n.2992+239C>T
ENST00000552227.1:n.275+239C>T
NM_004984.2:c.2992+239C>T	NP_004975.2:n.2992+239C>T
NM_001354705.1:c.2725+239C>T	NP_001341634.1:n.2725+239C>T
NM_004984.3:c.2992+239C>T	NP_004975.2:n.2992+239C>T
XR_002957324.1:n.3225+239C>T
NM_004984.4:c.2992+239C>T MANE Select	NP_004975.2:n.2992+239C>T
NM_001354705.2:c.2725+239C>T	NP_001341634.1:n.2725+239C>T