Canonical Allele Identifier: CA385497941
Gene: KIF5A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57567196G>A
GRCh37 chr12:g.57960979G>A
Revel Score:
ENST00000455537 (MANE Select) 0.937
ENST00000286452 0.937
gnomAD v2:
12:57960979 G / A
gnomAD v4:
chr12-57567196-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000516106
RCV001391453
ClinVar Variation:
424697
dbSNP:
1488871976
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57567196G>A , CM000674.2:g.57567196G>A GRCh38
NC_000012.11:g.57960979G>A , CM000674.1:g.57960979G>A GRCh37
NC_000012.10:g.56247246G>A NCBI36
NG_008155.1:g.22133G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.572G>A MANE Select ENSP00000408979.2:p.Arg191His
ENST00000674619.1:c.572G>A ENSP00000502270.1:p.Arg191His
ENST00000676457.1:c.467G>A ENSP00000501588.1:p.Arg156His
ENST00000286452.5:c.305G>A ENSP00000286452.5:p.Arg102His
ENST00000455537.6:c.572G>A ENSP00000408979.2:p.Arg191His
NM_004984.2:c.572G>A NP_004975.2:p.Arg191His
NM_001354705.1:c.305G>A NP_001341634.1:p.Arg102His
NM_004984.3:c.572G>A NP_004975.2:p.Arg191His
XR_002957324.1:n.805G>A
NM_004984.4:c.572G>A MANE Select NP_004975.2:p.Arg191His
NM_001354705.2:c.305G>A NP_001341634.1:p.Arg102His
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