Canonical Allele Identifier: CA273767

Gene: KIFBP

Linked Data

• ClinVar Variation Id: 183145
• ClinVar RCV Id: RCV001795283
• dbSNP Id: rs730882150
• ExAC: 10:70764875 C / A
• gnomAD v2: 10-70764875-C-A
• gnomAD v3: 10-69005119-C-A
• gnomAD v4: 10-69005119-C-A
• MyVariant Identifiers: chr10:g.70764875C>A (hg19) ; chr10:g.69005119C>A (hg38)
• PubMed: PMID:23427148

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69005119C>A , CM000672.2:g.69005119C>A	GRCh38
NC_000010.10:g.70764875C>A , CM000672.1:g.70764875C>A	GRCh37
NC_000010.9:g.70434881C>A	NCBI36
NG_017061.1:g.21399C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361983.7:c.599C>A MANE Select	ENSP00000354848.4:p.Ser200Ter
ENST00000625461.2:n.629C>A
ENST00000626493.2:c.599C>A	ENSP00000486692.1:p.Ser200Ter
ENST00000635779.2:c.599C>A	ENSP00000489663.1:p.Ser200Ter
ENST00000635971.2:c.599C>A	ENSP00000489878.2:p.Ser200Ter
ENST00000636200.2:c.599C>A	ENSP00000490113.2:p.Ser200Ter
ENST00000637101.2:c.*172C>A	ENSP00000490704.1:n.*172C>A
ENST00000637104.2:c.*168C>A	ENSP00000490019.2:n.*168C>A
ENST00000637323.2:c.*240C>A	ENSP00000489659.2:n.*240C>A
ENST00000637420.2:c.599C>A	ENSP00000490404.2:p.Ser200Ter
ENST00000637738.2:c.599C>A	ENSP00000490742.2:p.Ser200Ter
ENST00000638119.2:c.674C>A	ENSP00000490026.1:p.Ser225Ter
ENST00000674660.1:c.548C>A	ENSP00000502562.1:p.Ser183Ter
ENST00000674688.1:n.629C>A
ENST00000674897.1:c.83C>A	ENSP00000502225.1:p.Ser28Ter
ENST00000674936.1:c.599C>A	ENSP00000502484.1:p.Ser200Ter
ENST00000675576.1:c.500C>A	ENSP00000502750.1:p.Ser167Ter
ENST00000676080.1:c.*112C>A	ENSP00000502706.1:n.*112C>A
ENST00000361983.6:c.599C>A	ENSP00000354848.4:p.Ser200Ter
ENST00000625461.1:n.315C>A
ENST00000626493.1:c.599C>A	ENSP00000486692.1:p.Ser200Ter
NM_015634.3:c.599C>A	NP_056449.1:p.Ser200Ter
NM_015634.4:c.599C>A MANE Select	NP_056449.1:p.Ser200Ter