Canonical Allele Identifier: CA6653251

Gene: KIF5A

Linked Data

• dbSNP Id: rs540239332
• ExAC: 12:57975652 G / C
• gnomAD v2: 12-57975652-G-C
• gnomAD v3: 12-57581869-G-C
• gnomAD v4: 12-57581869-G-C
• MyVariant Identifiers: chr12:g.57975652G>C (hg19) ; chr12:g.57581869G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581869G>C , CM000674.2:g.57581869G>C	GRCh38
NC_000012.11:g.57975652G>C , CM000674.1:g.57975652G>C	GRCh37
NC_000012.10:g.56261919G>C	NCBI36
NG_008155.1:g.36806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-1G>C MANE Select	ENSP00000408979.2:n.2910-1G>C
ENST00000674619.1:c.2931-1G>C	ENSP00000502270.1:n.2931-1G>C
ENST00000675737.1:n.314-1G>C
ENST00000675882.1:n.2432G>C
ENST00000675929.1:n.1468-1G>C
ENST00000676457.1:c.2805-1G>C	ENSP00000501588.1:n.2805-1G>C
ENST00000286452.5:c.2643-1G>C	ENSP00000286452.5:n.2643-1G>C
ENST00000455537.6:c.2910-1G>C	ENSP00000408979.2:n.2910-1G>C
ENST00000552227.1:n.192G>C
NM_004984.2:c.2910-1G>C	NP_004975.2:n.2910-1G>C
NM_001354705.1:c.2643-1G>C	NP_001341634.1:n.2643-1G>C
NM_004984.3:c.2910-1G>C	NP_004975.2:n.2910-1G>C
XR_002957324.1:n.3143-1G>C
NM_004984.4:c.2910-1G>C MANE Select	NP_004975.2:n.2910-1G>C
NM_001354705.2:c.2643-1G>C	NP_001341634.1:n.2643-1G>C