Canonical Allele Identifier: CA605313059

Gene: KIF5A

Linked Data

• dbSNP Id: rs1303672284
• gnomAD v2: 12-57968690-C-T
• gnomAD v3: 12-57574907-C-T
• gnomAD v4: 12-57574907-C-T
• MyVariant Identifiers: chr12:g.57968690C>T (hg19) ; chr12:g.57574907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57574907C>T , CM000674.2:g.57574907C>T	GRCh38
NC_000012.11:g.57968690C>T , CM000674.1:g.57968690C>T	GRCh37
NC_000012.10:g.56254957C>T	NCBI36
NG_008155.1:g.29844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.1717-177C>T MANE Select	ENSP00000408979.2:n.1717-177C>T
ENST00000674619.1:c.1717-177C>T	ENSP00000502270.1:n.1717-177C>T
ENST00000675629.1:c.46-177C>T	ENSP00000502531.1:n.46-177C>T
ENST00000675882.1:n.704-177C>T
ENST00000675929.1:n.275-177C>T
ENST00000675984.1:n.959-177C>T
ENST00000676081.1:n.863-177C>T
ENST00000676352.1:c.208-177C>T	ENSP00000501978.1:n.208-177C>T
ENST00000676457.1:c.1612-177C>T	ENSP00000501588.1:n.1612-177C>T
ENST00000286452.5:c.1450-177C>T	ENSP00000286452.5:n.1450-177C>T
ENST00000455537.6:c.1717-177C>T	ENSP00000408979.2:n.1717-177C>T
NM_004984.2:c.1717-177C>T	NP_004975.2:n.1717-177C>T
NM_001354705.1:c.1450-177C>T	NP_001341634.1:n.1450-177C>T
NM_004984.3:c.1717-177C>T	NP_004975.2:n.1717-177C>T
XR_002957324.1:n.1950-177C>T
NM_004984.4:c.1717-177C>T MANE Select	NP_004975.2:n.1717-177C>T
NM_001354705.2:c.1450-177C>T	NP_001341634.1:n.1450-177C>T