Canonical Allele Identifier: CA5604557

Gene: KIF11

Linked Data

• ClinVar Variation Id: 235554
• ClinVar RCV Id: RCV000224738 ; RCV001699160 ; RCV002500752
• dbSNP Id: rs34417963
• ExAC: 10:94413508 G / C
• gnomAD v2: 10-94413508-G-C
• gnomAD v3: 10-92653751-G-C
• gnomAD v4: 10-92653751-G-C
• MyVariant Identifiers: chr10:g.94413508G>C (hg19) ; chr10:g.92653751G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.92653751G>C , CM000672.2:g.92653751G>C	GRCh38
NC_000010.10:g.94413508G>C , CM000672.1:g.94413508G>C	GRCh37
NC_000010.9:g.94403488G>C	NCBI36
NG_032580.1:g.65684G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260731.5:c.3126G>C MANE Select	ENSP00000260731.3:p.Leu1042Phe
ENST00000676621.1:c.*1644G>C	ENSP00000503639.1:n.*1644G>C
ENST00000676647.1:c.2919G>C	ENSP00000503394.1:p.Leu973Phe
ENST00000676757.1:c.2919G>C	ENSP00000504289.1:p.Leu973Phe
ENST00000677720.1:c.*1100G>C	ENSP00000504840.1:n.*1100G>C
ENST00000260731.4:c.3126G>C	ENSP00000260731.3:p.Leu1042Phe
NM_004523.3:c.3126G>C	NP_004514.2:p.Leu1042Phe
NM_004523.4:c.3126G>C MANE Select	NP_004514.2:p.Leu1042Phe