Canonical Allele Identifier: CA10647497
Gene: KIF7 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89648480G>C
GRCh37 chr15:g.90191711G>C
gnomAD v2:
15:90191711 G / C
gnomAD v3:
15:89648480 G / C
gnomAD v4:
chr15-89648480-G-C
Joint Max Group AF 0.00076267 (SAS)
Genomes Max Group AF 0.00054183 (SAS)
Exomes Max Group AF 0.00069291 (SAS)
ClinVar RCV:
RCV000338853
ClinVar Variation:
317370
dbSNP:
886051536
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89648480G>C , CM000677.2:g.89648480G>C GRCh38
NC_000015.9:g.90191711G>C , CM000677.1:g.90191711G>C GRCh37
NC_000015.8:g.87992715G>C NCBI36
NG_030338.1:g.11972C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696512.1:c.1341C>G ENSP00000512678.1:p.Gly447=
ENST00000394412.8:c.1218C>G MANE Select ENSP00000377934.3:p.Gly406=
ENST00000394412.7:c.1218C>G ENSP00000377934.3:p.Gly406=
NM_198525.2:c.1218C>G NP_940927.2:p.Gly406=
XM_005254902.2:c.1218C>G XP_005254959.1:p.Gly406=
XM_011521531.1:c.1341C>G XP_011519833.1:p.Gly447=
XM_011521532.1:c.1341C>G XP_011519834.1:p.Gly447=
XM_011521533.1:c.1341C>G XP_011519835.1:p.Gly447=
XM_011521534.1:c.1341C>G XP_011519836.1:p.Gly447=
XM_011521535.1:c.1341C>G XP_011519837.1:p.Gly447=
XM_011521536.1:c.1341C>G XP_011519838.1:p.Gly447=
XM_011521537.1:c.1341C>G XP_011519839.1:p.Gly447=
XM_011521531.2:c.1341C>G XP_011519833.1:p.Gly447=
NM_198525.3:c.1218C>G MANE Select NP_940927.2:p.Gly406=
Search 100 bp 5'
Search 100 bp 3'