Canonical Allele Identifier: CA4129061

Gene: IQCE

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2590037G>A , CM000669.2:g.2590037G>A	GRCh38
NC_000007.13:g.2629671G>A , CM000669.1:g.2629671G>A	GRCh37
NC_000007.12:g.2596197G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152558.5:c.1175G>A MANE Select	NP_689771.3:p.Arg392His
ENST00000402050.7:c.1175G>A MANE Select	ENSP00000385597.2:p.Arg392His
NM_001287499.1:c.1175G>A	NP_001274428.1:p.Arg392His
NM_001287499.2:c.1175G>A	NP_001274428.1:p.Arg392His
NM_001287500.1:c.1127G>A	NP_001274429.1:p.Arg376His
NM_001287500.2:c.1127G>A	NP_001274429.1:p.Arg376His
NM_001287501.1:c.980G>A	NP_001274430.1:p.Arg327His
NM_001287501.2:c.980G>A	NP_001274430.1:p.Arg327His
NM_001287502.1:c.980G>A	NP_001274431.1:p.Arg327His
NM_001287502.2:c.980G>A	NP_001274431.1:p.Arg327His
NM_152558.4:c.1175G>A	NP_689771.3:p.Arg392His
ENST00000325979.11:c.980G>A	ENSP00000313772.7:p.Arg327His
ENST00000325997.13:c.*952G>A	ENSP00000314011.10:n.*952G>A
ENST00000402050.6:c.1175G>A	ENSP00000385597.2:p.Arg392His
ENST00000404984.5:c.1022G>A	ENSP00000385945.1:p.Arg341His
ENST00000438376.6:c.1127G>A	ENSP00000396178.2:p.Arg376His
ENST00000470731.5:n.1309G>A
ENST00000476665.5:c.1175G>A	ENSP00000480715.1:p.Arg392His
ENST00000490913.1:n.133G>A
ENST00000611775.4:c.1127G>A	ENSP00000480668.1:p.Arg376His
ENST00000623361.3:c.980G>A	ENSP00000485601.1:p.Arg327His
XM_006715676.2:c.980G>A	XP_006715739.1:p.Arg327His
XM_006715677.2:c.740G>A	XP_006715740.1:p.Arg247His
XM_011515242.1:c.1040G>A	XP_011513544.1:p.Arg347His
XM_011515243.1:c.980G>A	XP_011513545.1:p.Arg327His
XM_011515244.1:c.458G>A	XP_011513546.1:p.Arg153His
XM_011515244.3:c.458G>A	XP_011513546.1:p.Arg153His
XM_017011902.1:c.1196G>A	XP_016867391.1:p.Arg399His
XM_017011903.1:c.980G>A	XP_016867392.1:p.Arg327His
XM_024446698.1:c.1100G>A	XP_024302466.1:p.Arg367His
XM_024446699.1:c.740G>A	XP_024302467.1:p.Arg247His
XM_024446700.1:c.740G>A	XP_024302468.1:p.Arg247His