Canonical Allele Identifier: CA4128885
Gene: IQCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2584277C>T , CM000669.2:g.2584277C>T GRCh38
NC_000007.13:g.2623911C>T , CM000669.1:g.2623911C>T GRCh37
NC_000007.12:g.2590437C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_152558.5:c.816C>T MANE Select NP_689771.3:p.Thr272=
ENST00000402050.7:c.816C>T MANE Select ENSP00000385597.2:p.Thr272=
NM_001287499.1:c.816C>T NP_001274428.1:p.Thr272=
NM_001287499.2:c.816C>T NP_001274428.1:p.Thr272=
NM_001287500.1:c.768C>T NP_001274429.1:p.Thr256=
NM_001287500.2:c.768C>T NP_001274429.1:p.Thr256=
NM_001287501.1:c.621C>T NP_001274430.1:p.Thr207=
NM_001287501.2:c.621C>T NP_001274430.1:p.Thr207=
NM_001287502.1:c.621C>T NP_001274431.1:p.Thr207=
NM_001287502.2:c.621C>T NP_001274431.1:p.Thr207=
NM_152558.4:c.816C>T NP_689771.3:p.Thr272=
ENST00000325979.11:c.621C>T ENSP00000313772.7:p.Thr207=
ENST00000325997.13:c.*593C>T ENSP00000314011.10:n.*593C>T
ENST00000402050.6:c.816C>T ENSP00000385597.2:p.Thr272=
ENST00000404984.5:c.663C>T ENSP00000385945.1:p.Thr221=
ENST00000427817.1:c.237C>T ENSP00000415261.1:p.Thr79=
ENST00000438376.6:c.768C>T ENSP00000396178.2:p.Thr256=
ENST00000470731.5:n.950C>T
ENST00000476665.5:c.816C>T ENSP00000480715.1:p.Thr272=
ENST00000497572.1:n.327C>T
ENST00000611775.4:c.768C>T ENSP00000480668.1:p.Thr256=
ENST00000623361.3:c.621C>T ENSP00000485601.1:p.Thr207=
XM_006715676.2:c.621C>T XP_006715739.1:p.Thr207=
XM_006715677.2:c.381C>T XP_006715740.1:p.Thr127=
XM_011515242.1:c.681C>T XP_011513544.1:p.Thr227=
XM_011515243.1:c.621C>T XP_011513545.1:p.Thr207=
XM_011515244.1:c.99C>T XP_011513546.1:p.Thr33=
XM_011515244.3:c.99C>T XP_011513546.1:p.Thr33=
XM_017011902.1:c.837C>T XP_016867391.1:p.Thr279=
XM_017011903.1:c.621C>T XP_016867392.1:p.Thr207=
XM_024446698.1:c.741C>T XP_024302466.1:p.Thr247=
XM_024446699.1:c.381C>T XP_024302467.1:p.Thr127=
XM_024446700.1:c.381C>T XP_024302468.1:p.Thr127=