Canonical Allele Identifier: CA393761991
Community Standard Title: NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter)
Gene: KIF7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89642325C>A , CM000677.2:g.89642325C>A GRCh38
NC_000015.9:g.90185556C>A , CM000677.1:g.90185556C>A GRCh37
NC_000015.8:g.87986560C>A NCBI36
NG_030338.1:g.18127G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198525.3:c.2272G>T MANE Select NP_940927.2:p.Glu758Ter
ENST00000394412.8:c.2272G>T MANE Select ENSP00000377934.3:p.Glu758Ter
NM_198525.2:c.2272G>T NP_940927.2:p.Glu758Ter
ENST00000394412.7:c.2272G>T ENSP00000377934.3:p.Glu758Ter
ENST00000696512.1:c.2395G>T ENSP00000512678.1:p.Glu799Ter
XM_005254902.2:c.2272G>T XP_005254959.1:p.Glu758Ter
XM_011521531.1:c.2395G>T XP_011519833.1:p.Glu799Ter
XM_011521531.2:c.2395G>T XP_011519833.1:p.Glu799Ter
XM_011521532.1:c.2392G>T XP_011519834.1:p.Glu798Ter
XM_011521533.1:c.2392G>T XP_011519835.1:p.Glu798Ter
XM_011521534.1:c.2395G>T XP_011519836.1:p.Glu799Ter
XM_011521535.1:c.2395G>T XP_011519837.1:p.Glu799Ter
XM_011521536.1:c.2395G>T XP_011519838.1:p.Glu799Ter
XM_011521537.1:c.2395G>T XP_011519839.1:p.Glu799Ter