Canonical Allele Identifier: CA2788825

Gene: IQCG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.197912700T>G , CM000665.2:g.197912700T>G	GRCh38
NC_000003.11:g.197639571T>G , CM000665.1:g.197639571T>G	GRCh37
NC_000003.10:g.199123968T>G	NCBI36
NG_033072.1:g.52316A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032263.5:c.938A>C MANE Select	NP_115639.1:p.Glu313Ala
ENST00000265239.11:c.938A>C MANE Select	ENSP00000265239.6:p.Glu313Ala
NM_001134435.2:c.938A>C	NP_001127907.1:p.Glu313Ala
NM_001134435.3:c.938A>C	NP_001127907.1:p.Glu313Ala
NM_001323027.1:c.938A>C	NP_001309956.1:p.Glu313Ala
NM_001323027.2:c.938A>C	NP_001309956.1:p.Glu313Ala
NM_001323028.1:c.881A>C	NP_001309957.1:p.Glu294Ala
NM_001323028.2:c.881A>C	NP_001309957.1:p.Glu294Ala
NM_001323029.1:c.644A>C	NP_001309958.1:p.Glu215Ala
NM_001323029.2:c.644A>C	NP_001309958.1:p.Glu215Ala
NM_032263.3:c.938A>C	NP_115639.1:p.Glu313Ala
NM_032263.4:c.938A>C	NP_115639.1:p.Glu313Ala
ENST00000265239.10:c.938A>C	ENSP00000265239.6:p.Glu313Ala
ENST00000455191.5:c.938A>C	ENSP00000407736.1:p.Glu313Ala
ENST00000469822.1:n.253A>C
ENST00000478903.5:n.585A>C
ENST00000485787.1:n.231A>C
ENST00000490748.5:n.908A>C
XM_006713785.2:c.644A>C	XP_006713848.1:p.Glu215Ala
XM_024453790.1:c.938A>C	XP_024309558.1:p.Glu313Ala
XM_024453791.1:c.644A>C	XP_024309559.1:p.Glu215Ala
XR_002959600.1:n.2099A>C
XR_002959601.1:n.1830A>C
XR_924190.1:n.2099A>C