Canonical Allele Identifier: CA172377

Gene: KIFBP

Linked Data

• ClinVar Variation Id: 158698
• ClinVar RCV Id: RCV000146134 ; RCV000984789 ; RCV000888750 ; RCV003935246
• dbSNP Id: rs148768851
• ExAC: 10:70748656 A / G
• gnomAD v2: 10-70748656-A-G
• gnomAD v3: 10-68988900-A-G
• gnomAD v4: 10-68988900-A-G
• MyVariant Identifiers: chr10:g.70748656A>G (hg19) ; chr10:g.68988900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68988900A>G , CM000672.2:g.68988900A>G	GRCh38
NC_000010.10:g.70748656A>G , CM000672.1:g.70748656A>G	GRCh37
NC_000010.9:g.70418662A>G	NCBI36
NG_017061.1:g.5180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361983.7:c.68A>G MANE Select	ENSP00000354848.4:p.Glu23Gly
ENST00000625461.2:n.98A>G
ENST00000626493.2:c.68A>G	ENSP00000486692.1:p.Glu23Gly
ENST00000635779.2:c.68A>G	ENSP00000489663.1:p.Glu23Gly
ENST00000635971.2:c.68A>G	ENSP00000489878.2:p.Glu23Gly
ENST00000636200.2:c.68A>G	ENSP00000490113.2:p.Glu23Gly
ENST00000637101.2:c.68A>G	ENSP00000490704.1:p.Glu23Gly
ENST00000637104.2:c.68A>G	ENSP00000490019.2:p.Glu23Gly
ENST00000637323.2:c.68A>G	ENSP00000489659.2:p.Glu23Gly
ENST00000637420.2:c.68A>G	ENSP00000490404.2:p.Glu23Gly
ENST00000637738.2:c.68A>G	ENSP00000490742.2:p.Glu23Gly
ENST00000638119.2:c.68A>G	ENSP00000490026.1:p.Glu23Gly
ENST00000674660.1:c.68A>G	ENSP00000502562.1:p.Glu23Gly
ENST00000674688.1:n.98A>G
ENST00000674936.1:c.68A>G	ENSP00000502484.1:p.Glu23Gly
ENST00000675576.1:c.68A>G	ENSP00000502750.1:p.Glu23Gly
ENST00000676080.1:c.68A>G	ENSP00000502706.1:p.Glu23Gly
ENST00000361983.6:c.68A>G	ENSP00000354848.4:p.Glu23Gly
ENST00000626493.1:c.68A>G	ENSP00000486692.1:p.Glu23Gly
NM_015634.3:c.68A>G	NP_056449.1:p.Glu23Gly
NM_015634.4:c.68A>G MANE Select	NP_056449.1:p.Glu23Gly