Canonical Allele Identifier: CA209205883

Gene: KIFBP

Linked Data

• ClinVar Variation Id: 1807045
• ClinVar RCV Id: RCV002474474 ; RCV004064265
• dbSNP Id: rs1047715298
• gnomAD v2: 10-70764817-C-T
• gnomAD v3: 10-69005061-C-T
• gnomAD v4: 10-69005061-C-T
• MyVariant Identifiers: chr10:g.70764817C>T (hg19) ; chr10:g.69005061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69005061C>T , CM000672.2:g.69005061C>T	GRCh38
NC_000010.10:g.70764817C>T , CM000672.1:g.70764817C>T	GRCh37
NC_000010.9:g.70434823C>T	NCBI36
NG_017061.1:g.21341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361983.7:c.541C>T MANE Select	ENSP00000354848.4:p.Leu181Phe
ENST00000625461.2:n.571C>T
ENST00000626493.2:c.541C>T	ENSP00000486692.1:p.Leu181Phe
ENST00000635779.2:c.541C>T	ENSP00000489663.1:p.Leu181Phe
ENST00000635971.2:c.541C>T	ENSP00000489878.2:p.Leu181Phe
ENST00000636200.2:c.541C>T	ENSP00000490113.2:p.Leu181Phe
ENST00000637101.2:c.*114C>T	ENSP00000490704.1:n.*114C>T
ENST00000637104.2:c.*110C>T	ENSP00000490019.2:n.*110C>T
ENST00000637323.2:c.*182C>T	ENSP00000489659.2:n.*182C>T
ENST00000637420.2:c.541C>T	ENSP00000490404.2:p.Leu181Phe
ENST00000637738.2:c.541C>T	ENSP00000490742.2:p.Leu181Phe
ENST00000638119.2:c.616C>T	ENSP00000490026.1:p.Leu206Phe
ENST00000674660.1:c.526-36C>T	ENSP00000502562.1:n.526-36C>T
ENST00000674688.1:n.571C>T
ENST00000674897.1:c.25C>T	ENSP00000502225.1:p.Leu9Phe
ENST00000674936.1:c.541C>T	ENSP00000502484.1:p.Leu181Phe
ENST00000675576.1:c.442C>T	ENSP00000502750.1:p.Leu148Phe
ENST00000676080.1:c.*54C>T	ENSP00000502706.1:n.*54C>T
ENST00000361983.6:c.541C>T	ENSP00000354848.4:p.Leu181Phe
ENST00000625461.1:n.257C>T
ENST00000626493.1:c.541C>T	ENSP00000486692.1:p.Leu181Phe
NM_015634.3:c.541C>T	NP_056449.1:p.Leu181Phe
NM_015634.4:c.541C>T MANE Select	NP_056449.1:p.Leu181Phe