Canonical Allele Identifier: CA5604327

Gene: KIF11

Linked Data

• ClinVar Variation Id: 1421399
• ClinVar RCV Id: RCV001916899 ; RCV002507580
• dbSNP Id: rs781259791
• ExAC: 10:94397231 T / G
• gnomAD v2: 10-94397231-T-G
• gnomAD v3: 10-92637474-T-G
• gnomAD v4: 10-92637474-T-G
• MyVariant Identifiers: chr10:g.94397231T>G (hg19) ; chr10:g.92637474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.92637474T>G , CM000672.2:g.92637474T>G	GRCh38
NC_000010.10:g.94397231T>G , CM000672.1:g.94397231T>G	GRCh37
NC_000010.9:g.94387211T>G	NCBI36
NG_032580.1:g.49407T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260731.5:c.2089T>G MANE Select	ENSP00000260731.3:p.Leu697Val
ENST00000676621.1:c.*607T>G	ENSP00000503639.1:n.*607T>G
ENST00000676647.1:c.1882T>G	ENSP00000503394.1:p.Leu628Val
ENST00000676757.1:c.1882T>G	ENSP00000504289.1:p.Leu628Val
ENST00000677720.1:c.*63T>G	ENSP00000504840.1:n.*63T>G
ENST00000260731.4:c.2089T>G	ENSP00000260731.3:p.Leu697Val
NM_004523.3:c.2089T>G	NP_004514.2:p.Leu697Val
NM_004523.4:c.2089T>G MANE Select	NP_004514.2:p.Leu697Val