Canonical Allele Identifier: CA1788130314

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865409A= , CM000670.2:g.60865409A=	GRCh38
NC_000008.10:g.61777968A= , CM000670.1:g.61777968A=	GRCh37
NC_000008.9:g.61940522A=	NCBI36
NG_007009.1:g.191630A= , LRG_176:g.191630A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1646A=
ENST00000695852.1:n.577A=
ENST00000695853.1:c.*1529A=	ENSP00000512218.1:n.*1529A=
ENST00000423902.7:c.8470A= MANE Select	ENSP00000392028.1:p.Thr2824=
ENST00000423902.6:c.8470A=	ENSP00000392028.1:p.Thr2824=
ENST00000524602.5:c.2323A=	ENSP00000437061.1:p.Thr775=
ENST00000528280.1:n.516A=
NM_001316690.1:c.2323A=	NP_001303619.1:p.Thr775=
NM_017780.3:c.8470A=	NP_060250.2:p.Thr2824=
XM_011517553.1:c.8560A=	XP_011515855.1:p.Thr2854=
XM_011517554.1:c.8560A=	XP_011515856.1:p.Thr2854=
XM_011517555.1:c.8557A=	XP_011515857.1:p.Thr2853=
XM_011517556.1:c.8338A=	XP_011515858.1:p.Thr2780=
XM_011517557.1:c.6547A=	XP_011515859.1:p.Thr2183=
XM_011517558.1:c.6097A=	XP_011515860.1:p.Thr2033=
XM_011517559.1:c.5305A=	XP_011515861.1:p.Thr1769=
XM_011517553.2:c.8560A=	XP_011515855.1:p.Thr2854=
XM_011517554.3:c.8560A=	XP_011515856.1:p.Thr2854=
XM_011517555.2:c.8557A=	XP_011515857.1:p.Thr2853=
XM_017013612.1:c.8560A=	XP_016869101.1:p.Thr2854=
XM_017013613.1:c.8467A=	XP_016869102.1:p.Thr2823=
NM_017780.4:c.8470A= MANE Select	NP_060250.2:p.Thr2824=