Canonical Allele Identifier: CA5529722

Gene: KIFBP

Linked Data

• ClinVar Variation Id: 450165
• ClinVar RCV Id: RCV000522386
• dbSNP Id: rs773626340
• ExAC: 10:70764893 T / C
• gnomAD v2: 10-70764893-T-C
• gnomAD v3: 10-69005137-T-C
• gnomAD v4: 10-69005137-T-C
• MyVariant Identifiers: chr10:g.70764893T>C (hg19) ; chr10:g.69005137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69005137T>C , CM000672.2:g.69005137T>C	GRCh38
NC_000010.10:g.70764893T>C , CM000672.1:g.70764893T>C	GRCh37
NC_000010.9:g.70434899T>C	NCBI36
NG_017061.1:g.21417T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361983.7:c.605+12T>C MANE Select	ENSP00000354848.4:n.605+12T>C
ENST00000625461.2:n.635+12T>C
ENST00000626493.2:c.605+12T>C	ENSP00000486692.1:n.605+12T>C
ENST00000635779.2:c.605+12T>C	ENSP00000489663.1:n.605+12T>C
ENST00000635971.2:c.605+12T>C	ENSP00000489878.2:n.605+12T>C
ENST00000636200.2:c.605+12T>C	ENSP00000490113.2:n.605+12T>C
ENST00000637101.2:c.*178+12T>C	ENSP00000490704.1:n.*178+12T>C
ENST00000637104.2:c.*174+12T>C	ENSP00000490019.2:n.*174+12T>C
ENST00000637323.2:c.*246+12T>C	ENSP00000489659.2:n.*246+12T>C
ENST00000637420.2:c.605+12T>C	ENSP00000490404.2:n.605+12T>C
ENST00000637738.2:c.605+12T>C	ENSP00000490742.2:n.605+12T>C
ENST00000638119.2:c.680+12T>C	ENSP00000490026.1:n.680+12T>C
ENST00000674660.1:c.554+12T>C	ENSP00000502562.1:n.554+12T>C
ENST00000674688.1:n.635+12T>C
ENST00000674897.1:c.89+12T>C	ENSP00000502225.1:n.89+12T>C
ENST00000674936.1:c.605+12T>C	ENSP00000502484.1:n.605+12T>C
ENST00000675576.1:c.506+12T>C	ENSP00000502750.1:n.506+12T>C
ENST00000676080.1:c.*118+12T>C	ENSP00000502706.1:n.*118+12T>C
ENST00000361983.6:c.605+12T>C	ENSP00000354848.4:n.605+12T>C
ENST00000625461.1:n.321+12T>C
ENST00000626493.1:c.605+12T>C	ENSP00000486692.1:n.605+12T>C
NM_015634.3:c.605+12T>C	NP_056449.1:n.605+12T>C
NM_015634.4:c.605+12T>C MANE Select	NP_056449.1:n.605+12T>C