Canonical Allele Identifier: CA020213

Gene: KIF7

Linked Data

• ClinVar Variation Id: 197899
• ClinVar RCV Id: RCV000248504 ; RCV001089258 ; RCV000513978 ; RCV002478595
• dbSNP Id: rs527804875
• ExAC: 15:90191500 C / T
• gnomAD v2: 15-90191500-C-T
• gnomAD v3: 15-89648269-C-T
• gnomAD v4: 15-89648269-C-T
• MyVariant Identifiers: chr15:g.90191500C>T (hg19) ; chr15:g.89648269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89648269C>T , CM000677.2:g.89648269C>T	GRCh38
NC_000015.9:g.90191500C>T , CM000677.1:g.90191500C>T	GRCh37
NC_000015.8:g.87992504C>T	NCBI36
NG_030338.1:g.12183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.1552G>A	ENSP00000512678.1:p.Ala518Thr
ENST00000394412.8:c.1429G>A MANE Select	ENSP00000377934.3:p.Ala477Thr
ENST00000394412.7:c.1429G>A	ENSP00000377934.3:p.Ala477Thr
NM_198525.2:c.1429G>A	NP_940927.2:p.Ala477Thr
XM_005254902.2:c.1429G>A	XP_005254959.1:p.Ala477Thr
XM_011521531.1:c.1552G>A	XP_011519833.1:p.Ala518Thr
XM_011521532.1:c.1552G>A	XP_011519834.1:p.Ala518Thr
XM_011521533.1:c.1552G>A	XP_011519835.1:p.Ala518Thr
XM_011521534.1:c.1552G>A	XP_011519836.1:p.Ala518Thr
XM_011521535.1:c.1552G>A	XP_011519837.1:p.Ala518Thr
XM_011521536.1:c.1552G>A	XP_011519838.1:p.Ala518Thr
XM_011521537.1:c.1552G>A	XP_011519839.1:p.Ala518Thr
XM_011521531.2:c.1552G>A	XP_011519833.1:p.Ala518Thr
NM_198525.3:c.1429G>A MANE Select	NP_940927.2:p.Ala477Thr