Canonical Allele Identifier: CA5604490

Gene: KIF11

Linked Data

• ClinVar Variation Id: 285173
• ClinVar RCV Id: RCV000294255 ; RCV000941912 ; RCV003930110 ; RCV004021175
• dbSNP Id: rs143577999
• ExAC: 10:94409735 A / G
• gnomAD v2: 10-94409735-A-G
• gnomAD v3: 10-92649978-A-G
• gnomAD v4: 10-92649978-A-G
• MyVariant Identifiers: chr10:g.94409735A>G (hg19) ; chr10:g.92649978A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.92649978A>G , CM000672.2:g.92649978A>G	GRCh38
NC_000010.10:g.94409735A>G , CM000672.1:g.94409735A>G	GRCh37
NC_000010.9:g.94399715A>G	NCBI36
NG_032580.1:g.61911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260731.5:c.2914A>G MANE Select	ENSP00000260731.3:p.Thr972Ala
ENST00000676621.1:c.*1432A>G	ENSP00000503639.1:n.*1432A>G
ENST00000676647.1:c.2707A>G	ENSP00000503394.1:p.Thr903Ala
ENST00000676757.1:c.2707A>G	ENSP00000504289.1:p.Thr903Ala
ENST00000677720.1:c.*888A>G	ENSP00000504840.1:n.*888A>G
ENST00000260731.4:c.2914A>G	ENSP00000260731.3:p.Thr972Ala
NM_004523.3:c.2914A>G	NP_004514.2:p.Thr972Ala
NM_004523.4:c.2914A>G MANE Select	NP_004514.2:p.Thr972Ala