Canonical Allele Identifier: CA7728596

Gene: KIF7

Linked Data

• ClinVar Variation Id: 317373
• ClinVar RCV Id: RCV000368715 ; RCV003920336
• dbSNP Id: rs756368261
• ExAC: 15:90191977 C / T
• gnomAD v2: 15-90191977-C-T
• gnomAD v3: 15-89648746-C-T
• gnomAD v4: 15-89648746-C-T
• MyVariant Identifiers: chr15:g.90191977C>T (hg19) ; chr15:g.89648746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89648746C>T , CM000677.2:g.89648746C>T	GRCh38
NC_000015.9:g.90191977C>T , CM000677.1:g.90191977C>T	GRCh37
NC_000015.8:g.87992981C>T	NCBI36
NG_030338.1:g.11706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.1075G>A	ENSP00000512678.1:p.Ala359Thr
ENST00000394412.8:c.952G>A MANE Select	ENSP00000377934.3:p.Ala318Thr
ENST00000394412.7:c.952G>A	ENSP00000377934.3:p.Ala318Thr
ENST00000445906.1:c.*611G>A	ENSP00000395906.1:n.*611G>A
NM_198525.2:c.952G>A	NP_940927.2:p.Ala318Thr
XM_005254902.2:c.952G>A	XP_005254959.1:p.Ala318Thr
XM_011521531.1:c.1075G>A	XP_011519833.1:p.Ala359Thr
XM_011521532.1:c.1075G>A	XP_011519834.1:p.Ala359Thr
XM_011521533.1:c.1075G>A	XP_011519835.1:p.Ala359Thr
XM_011521534.1:c.1075G>A	XP_011519836.1:p.Ala359Thr
XM_011521535.1:c.1075G>A	XP_011519837.1:p.Ala359Thr
XM_011521536.1:c.1075G>A	XP_011519838.1:p.Ala359Thr
XM_011521537.1:c.1075G>A	XP_011519839.1:p.Ala359Thr
XM_011521531.2:c.1075G>A	XP_011519833.1:p.Ala359Thr
NM_198525.3:c.952G>A MANE Select	NP_940927.2:p.Ala318Thr