Canonical Allele Identifier: CA492293007
Community Standard Title: NM_198525.3(KIF7):c.657G>A (p.Thr219=)
Gene: KIF7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89649240C>T , CM000677.2:g.89649240C>T GRCh38
NC_000015.9:g.90192471C>T , CM000677.1:g.90192471C>T GRCh37
NC_000015.8:g.87993475C>T NCBI36
NG_030338.1:g.11212G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198525.3:c.657G>A MANE Select NP_940927.2:p.Thr219=
ENST00000394412.8:c.657G>A MANE Select ENSP00000377934.3:p.Thr219=
NM_198525.2:c.657G>A NP_940927.2:p.Thr219=
ENST00000394412.7:c.657G>A ENSP00000377934.3:p.Thr219=
ENST00000445906.1:c.*316G>A ENSP00000395906.1:n.*316G>A
ENST00000696512.1:c.780G>A ENSP00000512678.1:p.Thr260=
XM_005254902.2:c.657G>A XP_005254959.1:p.Thr219=
XM_011521531.1:c.780G>A XP_011519833.1:p.Thr260=
XM_011521531.2:c.780G>A XP_011519833.1:p.Thr260=
XM_011521532.1:c.780G>A XP_011519834.1:p.Thr260=
XM_011521533.1:c.780G>A XP_011519835.1:p.Thr260=
XM_011521534.1:c.780G>A XP_011519836.1:p.Thr260=
XM_011521535.1:c.780G>A XP_011519837.1:p.Thr260=
XM_011521536.1:c.780G>A XP_011519838.1:p.Thr260=
XM_011521537.1:c.780G>A XP_011519839.1:p.Thr260=