Canonical Allele Identifier: CA7727531
Community Standard Title: NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89628667G>A , CM000677.2:g.89628667G>A GRCh38
NC_000015.9:g.90171898G>A , CM000677.1:g.90171898G>A GRCh37
NC_000015.8:g.87972902G>A NCBI36
NG_030338.1:g.31785C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198525.3:c.3784C>T (KIF7) MANE Select NP_940927.2:p.Arg1262Trp
ENST00000394412.8:c.3784C>T (KIF7) MANE Select ENSP00000377934.3:p.Arg1262Trp
NM_198525.2:c.3784C>T (KIF7) NP_940927.2:p.Arg1262Trp
ENST00000394412.7:c.3784C>T (KIF7) ENSP00000377934.3:p.Arg1262Trp
ENST00000558928.1:n.114C>T (KIF7)
ENST00000561095.1:c.741-763G>A (TICRR)
ENST00000677187.1:n.1458C>T (KIF7)
ENST00000696512.1:c.3907C>T (KIF7) ENSP00000512678.1:p.Arg1303Trp
XM_005254902.2:c.3784C>T (KIF7) XP_005254959.1:p.Arg1262Trp
XM_011521531.1:c.3907C>T (KIF7) XP_011519833.1:p.Arg1303Trp
XM_011521531.2:c.3907C>T (KIF7) XP_011519833.1:p.Arg1303Trp
XM_011521532.1:c.3904C>T (KIF7) XP_011519834.1:p.Arg1302Trp
XM_011521533.1:c.3904C>T (KIF7) XP_011519835.1:p.Arg1302Trp
XM_011521534.1:c.3907C>T (KIF7) XP_011519836.1:p.Arg1303Trp
XM_011521535.1:c.3907C>T (KIF7) XP_011519837.1:p.Arg1303Trp
XM_011521536.1:c.3907C>T (KIF7) XP_011519838.1:p.Arg1303Trp