Canonical Allele Identifier: CA020318

Gene: KIF7

Linked Data

• ClinVar Variation Id: 30897
• ClinVar RCV Id: RCV000023883 ; RCV003329235
• dbSNP Id: rs387907045
• gnomAD v4: 15-89631605-G-A
• MyVariant Identifiers: chr15:g.90174836G>A (hg19) ; chr15:g.89631605G>A (hg38)
• PubMed: PMID:21552264 ; PMID:29321670

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89631605G>A , CM000677.2:g.89631605G>A	GRCh38
NC_000015.9:g.90174836G>A , CM000677.1:g.90174836G>A	GRCh37
NC_000015.8:g.87975840G>A	NCBI36
NG_030338.1:g.28847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.3124C>T	ENSP00000512678.1:p.Gln1042Ter
ENST00000394412.8:c.3001C>T MANE Select	ENSP00000377934.3:p.Gln1001Ter
ENST00000677187.1:n.675C>T
ENST00000394412.7:c.3001C>T	ENSP00000377934.3:p.Gln1001Ter
NM_198525.2:c.3001C>T	NP_940927.2:p.Gln1001Ter
XM_005254902.2:c.3001C>T	XP_005254959.1:p.Gln1001Ter
XM_011521531.1:c.3124C>T	XP_011519833.1:p.Gln1042Ter
XM_011521532.1:c.3121C>T	XP_011519834.1:p.Gln1041Ter
XM_011521533.1:c.3121C>T	XP_011519835.1:p.Gln1041Ter
XM_011521534.1:c.3124C>T	XP_011519836.1:p.Gln1042Ter
XM_011521535.1:c.3124C>T	XP_011519837.1:p.Gln1042Ter
XM_011521536.1:c.3124C>T	XP_011519838.1:p.Gln1042Ter
XM_011521531.2:c.3124C>T	XP_011519833.1:p.Gln1042Ter
NM_198525.3:c.3001C>T MANE Select	NP_940927.2:p.Gln1001Ter