Canonical Allele Identifier: CA7727926
Gene: KIF7 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89632854G>A
GRCh37 chr15:g.90176085G>A
Revel Score:
ENST00000394412 (MANE Select) 0.128
gnomAD v2:
15:90176085 G / A
gnomAD v3:
15:89632854 G / A
gnomAD v4:
chr15-89632854-G-A
Joint Max Group AF 0.00270169 (AFR)
Genomes Max Group AF 0.00309291 (AFR)
Exomes Max Group AF 0.00194032 (AFR)
ClinVar RCV:
RCV000364818
RCV001121707
ClinVar Variation:
287636
dbSNP:
141463861
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89632854G>A , CM000677.2:g.89632854G>A GRCh38
NC_000015.9:g.90176085G>A , CM000677.1:g.90176085G>A GRCh37
NC_000015.8:g.87977089G>A NCBI36
NG_030338.1:g.27598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696512.1:c.2984C>T ENSP00000512678.1:p.Thr995Met
ENST00000394412.8:c.2861C>T MANE Select ENSP00000377934.3:p.Thr954Met
ENST00000677187.1:n.535C>T
ENST00000394412.7:c.2861C>T ENSP00000377934.3:p.Thr954Met
NM_198525.2:c.2861C>T NP_940927.2:p.Thr954Met
XM_005254902.2:c.2861C>T XP_005254959.1:p.Thr954Met
XM_011521531.1:c.2984C>T XP_011519833.1:p.Thr995Met
XM_011521532.1:c.2981C>T XP_011519834.1:p.Thr994Met
XM_011521533.1:c.2981C>T XP_011519835.1:p.Thr994Met
XM_011521534.1:c.2984C>T XP_011519836.1:p.Thr995Met
XM_011521535.1:c.2984C>T XP_011519837.1:p.Thr995Met
XM_011521536.1:c.2984C>T XP_011519838.1:p.Thr995Met
XM_011521531.2:c.2984C>T XP_011519833.1:p.Thr995Met
NM_198525.3:c.2861C>T MANE Select NP_940927.2:p.Thr954Met
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