Canonical Allele Identifier: CA020312

Gene: KIF7

Linked Data

• ClinVar Variation Id: 194572
• ClinVar RCV Id: RCV000201541 ; RCV000513744 ; RCV001252541
• dbSNP Id: rs138410949
• ExAC: 15:90174856 T / C
• gnomAD v2: 15-90174856-T-C
• gnomAD v3: 15-89631625-T-C
• gnomAD v4: 15-89631625-T-C
• MyVariant Identifiers: chr15:g.90174856T>C (hg19) ; chr15:g.89631625T>C (hg38)
• PubMed: PMID:23891399 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89631625T>C , CM000677.2:g.89631625T>C	GRCh38
NC_000015.9:g.90174856T>C , CM000677.1:g.90174856T>C	GRCh37
NC_000015.8:g.87975860T>C	NCBI36
NG_030338.1:g.28827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.3104A>G	ENSP00000512678.1:p.Gln1035Arg
ENST00000394412.8:c.2981A>G MANE Select	ENSP00000377934.3:p.Gln994Arg
ENST00000677187.1:n.655A>G
ENST00000394412.7:c.2981A>G	ENSP00000377934.3:p.Gln994Arg
NM_198525.2:c.2981A>G	NP_940927.2:p.Gln994Arg
XM_005254902.2:c.2981A>G	XP_005254959.1:p.Gln994Arg
XM_011521531.1:c.3104A>G	XP_011519833.1:p.Gln1035Arg
XM_011521532.1:c.3101A>G	XP_011519834.1:p.Gln1034Arg
XM_011521533.1:c.3101A>G	XP_011519835.1:p.Gln1034Arg
XM_011521534.1:c.3104A>G	XP_011519836.1:p.Gln1035Arg
XM_011521535.1:c.3104A>G	XP_011519837.1:p.Gln1035Arg
XM_011521536.1:c.3104A>G	XP_011519838.1:p.Gln1035Arg
XM_011521531.2:c.3104A>G	XP_011519833.1:p.Gln1035Arg
NM_198525.3:c.2981A>G MANE Select	NP_940927.2:p.Gln994Arg