Canonical Allele Identifier: CA376896120
Gene: KIFBP HGNC NCBI

Linked Data

ClinVar Variation Id: 3115019
ClinVar RCV Id: RCV004414354

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69005073G>A , CM000672.2:g.69005073G>A GRCh38
NC_000010.10:g.70764829G>A , CM000672.1:g.70764829G>A GRCh37
NC_000010.9:g.70434835G>A NCBI36
NG_017061.1:g.21353G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361983.7:c.553G>A MANE Select ENSP00000354848.4:p.Glu185Lys
ENST00000625461.2:n.583G>A
ENST00000626493.2:c.553G>A ENSP00000486692.1:p.Glu185Lys
ENST00000635779.2:c.553G>A ENSP00000489663.1:p.Glu185Lys
ENST00000635971.2:c.553G>A ENSP00000489878.2:p.Glu185Lys
ENST00000636200.2:c.553G>A ENSP00000490113.2:p.Glu185Lys
ENST00000637101.2:c.*126G>A ENSP00000490704.1:n.*126G>A
ENST00000637104.2:c.*122G>A ENSP00000490019.2:n.*122G>A
ENST00000637323.2:c.*194G>A ENSP00000489659.2:n.*194G>A
ENST00000637420.2:c.553G>A ENSP00000490404.2:p.Glu185Lys
ENST00000637738.2:c.553G>A ENSP00000490742.2:p.Glu185Lys
ENST00000638119.2:c.628G>A ENSP00000490026.1:p.Glu210Lys
ENST00000674660.1:c.526-24G>A ENSP00000502562.1:n.526-24G>A
ENST00000674688.1:n.583G>A
ENST00000674897.1:c.37G>A ENSP00000502225.1:p.Glu13Lys
ENST00000674936.1:c.553G>A ENSP00000502484.1:p.Glu185Lys
ENST00000675576.1:c.454G>A ENSP00000502750.1:p.Glu152Lys
ENST00000676080.1:c.*66G>A ENSP00000502706.1:n.*66G>A
ENST00000361983.6:c.553G>A ENSP00000354848.4:p.Glu185Lys
ENST00000625461.1:n.269G>A
ENST00000626493.1:c.553G>A ENSP00000486692.1:p.Glu185Lys
NM_015634.3:c.553G>A NP_056449.1:p.Glu185Lys
NM_015634.4:c.553G>A MANE Select NP_056449.1:p.Glu185Lys