Canonical Allele Identifier: CA393759803
Community Standard Title: NM_198525.3(KIF7):c.2497C>T (p.Gln833Ter)
Gene: KIF7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89633781G>A , CM000677.2:g.89633781G>A GRCh38
NC_000015.9:g.90177012G>A , CM000677.1:g.90177012G>A GRCh37
NC_000015.8:g.87978016G>A NCBI36
NG_030338.1:g.26671C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198525.3:c.2497C>T MANE Select NP_940927.2:p.Gln833Ter
ENST00000394412.8:c.2497C>T MANE Select ENSP00000377934.3:p.Gln833Ter
NM_198525.2:c.2497C>T NP_940927.2:p.Gln833Ter
ENST00000394412.7:c.2497C>T ENSP00000377934.3:p.Gln833Ter
ENST00000696512.1:c.2620C>T ENSP00000512678.1:p.Gln874Ter
XM_005254902.2:c.2497C>T XP_005254959.1:p.Gln833Ter
XM_011521531.1:c.2620C>T XP_011519833.1:p.Gln874Ter
XM_011521531.2:c.2620C>T XP_011519833.1:p.Gln874Ter
XM_011521532.1:c.2617C>T XP_011519834.1:p.Gln873Ter
XM_011521533.1:c.2617C>T XP_011519835.1:p.Gln873Ter
XM_011521534.1:c.2620C>T XP_011519836.1:p.Gln874Ter
XM_011521535.1:c.2620C>T XP_011519837.1:p.Gln874Ter
XM_011521536.1:c.2620C>T XP_011519838.1:p.Gln874Ter
XM_011521537.1:c.2620C>T XP_011519839.1:p.Gln874Ter