Canonical Allele Identifier: CA6653262
Gene: KIF5A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57581917C>G
GRCh37 chr12:g.57975700C>G
Revel Score:
ENST00000455537 (MANE Select) 0.145
ENST00000286452 0.145
ENST00000547989 0.145
gnomAD v2:
12:57975700 C / G
gnomAD v3:
12:57581917 C / G
gnomAD v4:
chr12-57581917-C-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000313010
RCV001067408
ClinVar Variation:
284653
dbSNP:
113247976
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581917C>G , CM000674.2:g.57581917C>G GRCh38
NC_000012.11:g.57975700C>G , CM000674.1:g.57975700C>G GRCh37
NC_000012.10:g.56261967C>G NCBI36
NG_008155.1:g.36854C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2957C>G MANE Select ENSP00000408979.2:p.Pro986Arg
ENST00000674619.1:c.2978C>G ENSP00000502270.1:p.Pro993Arg
ENST00000675697.1:c.48C>G
ENST00000675737.1:n.361C>G
ENST00000675882.1:n.2480C>G
ENST00000675929.1:n.1515C>G
ENST00000676055.1:c.48C>G
ENST00000676457.1:c.2852C>G ENSP00000501588.1:p.Pro951Arg
ENST00000286452.5:c.2690C>G ENSP00000286452.5:p.Pro897Arg
ENST00000455537.6:c.2957C>G ENSP00000408979.2:p.Pro986Arg
ENST00000552227.1:n.240C>G
NM_004984.2:c.2957C>G NP_004975.2:p.Pro986Arg
NM_001354705.1:c.2690C>G NP_001341634.1:p.Pro897Arg
NM_004984.3:c.2957C>G NP_004975.2:p.Pro986Arg
XR_002957324.1:n.3190C>G
NM_004984.4:c.2957C>G MANE Select NP_004975.2:p.Pro986Arg
NM_001354705.2:c.2690C>G NP_001341634.1:p.Pro897Arg
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