Canonical Allele Identifier: CA1788129175

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865112A= , CM000670.2:g.60865112A=	GRCh38
NC_000008.10:g.61777671A= , CM000670.1:g.61777671A=	GRCh37
NC_000008.9:g.61940225A=	NCBI36
NG_007009.1:g.191333A= , LRG_176:g.191333A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1349A=
ENST00000695852.1:n.280A=
ENST00000695853.1:c.*1232A=	ENSP00000512218.1:n.*1232A=
ENST00000423902.7:c.8173A= MANE Select	ENSP00000392028.1:p.Ile2725=
ENST00000423902.6:c.8173A=	ENSP00000392028.1:p.Ile2725=
ENST00000524602.5:c.2026A=	ENSP00000437061.1:p.Ile676=
ENST00000528280.1:n.219A=
ENST00000532149.1:n.595A=
ENST00000618450.1:n.4209A=
NM_001316690.1:c.2026A=	NP_001303619.1:p.Ile676=
NM_017780.3:c.8173A=	NP_060250.2:p.Ile2725=
XM_011517553.1:c.8263A=	XP_011515855.1:p.Ile2755=
XM_011517554.1:c.8263A=	XP_011515856.1:p.Ile2755=
XM_011517555.1:c.8260A=	XP_011515857.1:p.Ile2754=
XM_011517556.1:c.8041A=	XP_011515858.1:p.Ile2681=
XM_011517557.1:c.6250A=	XP_011515859.1:p.Ile2084=
XM_011517558.1:c.5800A=	XP_011515860.1:p.Ile1934=
XM_011517559.1:c.5008A=	XP_011515861.1:p.Ile1670=
XM_011517553.2:c.8263A=	XP_011515855.1:p.Ile2755=
XM_011517554.3:c.8263A=	XP_011515856.1:p.Ile2755=
XM_011517555.2:c.8260A=	XP_011515857.1:p.Ile2754=
XM_017013612.1:c.8263A=	XP_016869101.1:p.Ile2755=
XM_017013613.1:c.8170A=	XP_016869102.1:p.Ile2724=
NM_017780.4:c.8173A= MANE Select	NP_060250.2:p.Ile2725=