Canonical Allele Identifier: CA690311560

Gene: KIF5A

Linked Data

• dbSNP Id: rs1448626655
• gnomAD v3: 12-57581702-G-C
• gnomAD v4: 12-57581702-G-C
• MyVariant Identifiers: chr12:g.57975485G>C (hg19) ; chr12:g.57581702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581702G>C , CM000674.2:g.57581702G>C	GRCh38
NC_000012.11:g.57975485G>C , CM000674.1:g.57975485G>C	GRCh37
NC_000012.10:g.56261752G>C	NCBI36
NG_008155.1:g.36639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2909+134G>C MANE Select	ENSP00000408979.2:n.2909+134G>C
ENST00000674619.1:c.2930+134G>C	ENSP00000502270.1:n.2930+134G>C
ENST00000675737.1:n.313+134G>C
ENST00000675882.1:n.2265G>C
ENST00000675929.1:n.1467+134G>C
ENST00000676457.1:c.2804+134G>C	ENSP00000501588.1:n.2804+134G>C
ENST00000286452.5:c.2642+134G>C	ENSP00000286452.5:n.2642+134G>C
ENST00000455537.6:c.2909+134G>C	ENSP00000408979.2:n.2909+134G>C
ENST00000552227.1:n.25G>C
NM_004984.2:c.2909+134G>C	NP_004975.2:n.2909+134G>C
NM_001354705.1:c.2642+134G>C	NP_001341634.1:n.2642+134G>C
NM_004984.3:c.2909+134G>C	NP_004975.2:n.2909+134G>C
XR_002957324.1:n.3142+134G>C
NM_004984.4:c.2909+134G>C MANE Select	NP_004975.2:n.2909+134G>C
NM_001354705.2:c.2642+134G>C	NP_001341634.1:n.2642+134G>C