Canonical Allele Identifier: CA5603918
Gene: KIF11 HGNC NCBI
ClinVar RCV:
RCV003244107
ClinVar Variation:
2511041
dbSNP:
769680276
gnomAD v2:
10:94366108 G / C
gnomAD v3:
10:92606351 G / C
gnomAD v4:
chr10-92606351-G-C
Joint Max Group AF 0.00003857 (NFE)
Exomes Max Group AF 0.00004007 (NFE)
MyVariant.info:
GRCh38 chr10:g.92606351G>C
GRCh37 chr10:g.94366108G>C
Revel Score:
ENST00000260731 (MANE Select) 0.118
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.92606351G>C , CM000672.2:g.92606351G>C GRCh38
NC_000010.10:g.94366108G>C , CM000672.1:g.94366108G>C GRCh37
NC_000010.9:g.94356088G>C NCBI36
NG_032580.1:g.18284G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260731.5:c.164G>C MANE Select ENSP00000260731.3:p.Gly55Ala
ENST00000676621.1:c.164G>C ENSP00000503639.1:p.Gly55Ala
ENST00000676647.1:c.-44G>C ENSP00000503394.1:n.-44G>C
ENST00000676757.1:c.-44G>C ENSP00000504289.1:n.-44G>C
ENST00000677720.1:c.164G>C ENSP00000504840.1:p.Gly55Ala
ENST00000260731.4:c.164G>C ENSP00000260731.3:p.Gly55Ala
NM_004523.3:c.164G>C NP_004514.2:p.Gly55Ala
NM_004523.4:c.164G>C MANE Select NP_004514.2:p.Gly55Ala
Search 100 bp 5'
Search 100 bp 3'