Canonical Allele Identifier: CA376896148

Gene: KIFBP

Linked Data

• dbSNP Id: rs1843517110
• gnomAD v3: 10-69005079-T-C
• gnomAD v4: 10-69005079-T-C
• MyVariant Identifiers: chr10:g.70764835T>C (hg19) ; chr10:g.69005079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69005079T>C , CM000672.2:g.69005079T>C	GRCh38
NC_000010.10:g.70764835T>C , CM000672.1:g.70764835T>C	GRCh37
NC_000010.9:g.70434841T>C	NCBI36
NG_017061.1:g.21359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361983.7:c.559T>C MANE Select	ENSP00000354848.4:p.Phe187Leu
ENST00000625461.2:n.589T>C
ENST00000626493.2:c.559T>C	ENSP00000486692.1:p.Phe187Leu
ENST00000635779.2:c.559T>C	ENSP00000489663.1:p.Phe187Leu
ENST00000635971.2:c.559T>C	ENSP00000489878.2:p.Phe187Leu
ENST00000636200.2:c.559T>C	ENSP00000490113.2:p.Phe187Leu
ENST00000637101.2:c.*132T>C	ENSP00000490704.1:n.*132T>C
ENST00000637104.2:c.*128T>C	ENSP00000490019.2:n.*128T>C
ENST00000637323.2:c.*200T>C	ENSP00000489659.2:n.*200T>C
ENST00000637420.2:c.559T>C	ENSP00000490404.2:p.Phe187Leu
ENST00000637738.2:c.559T>C	ENSP00000490742.2:p.Phe187Leu
ENST00000638119.2:c.634T>C	ENSP00000490026.1:p.Phe212Leu
ENST00000674660.1:c.526-18T>C	ENSP00000502562.1:n.526-18T>C
ENST00000674688.1:n.589T>C
ENST00000674897.1:c.43T>C	ENSP00000502225.1:p.Phe15Leu
ENST00000674936.1:c.559T>C	ENSP00000502484.1:p.Phe187Leu
ENST00000675576.1:c.460T>C	ENSP00000502750.1:p.Phe154Leu
ENST00000676080.1:c.*72T>C	ENSP00000502706.1:n.*72T>C
ENST00000361983.6:c.559T>C	ENSP00000354848.4:p.Phe187Leu
ENST00000625461.1:n.275T>C
ENST00000626493.1:c.559T>C	ENSP00000486692.1:p.Phe187Leu
NM_015634.3:c.559T>C	NP_056449.1:p.Phe187Leu
NM_015634.4:c.559T>C MANE Select	NP_056449.1:p.Phe187Leu