Canonical Allele Identifier: CA1788123297

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60862244C= , CM000670.2:g.60862244C=	GRCh38
NC_000008.10:g.61774803C= , CM000670.1:g.61774803C=	GRCh37
NC_000008.9:g.61937357C=	NCBI36
NG_007009.1:g.188465C= , LRG_176:g.188465C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017780.4:c.7879C= MANE Select	NP_060250.2:p.Arg2627=
ENST00000423902.7:c.7879C= MANE Select	ENSP00000392028.1:p.Arg2627=
NM_001316690.1:c.1732C=	NP_001303619.1:p.Arg578=
NM_017780.3:c.7879C=	NP_060250.2:p.Arg2627=
ENST00000423902.6:c.7879C=	ENSP00000392028.1:p.Arg2627=
ENST00000524602.5:c.1732C=	ENSP00000437061.1:p.Arg578=
ENST00000532149.1:n.301C=
ENST00000618450.1:n.1341C=
ENST00000695850.1:n.1055C=
ENST00000695851.1:n.259C=
ENST00000695853.1:c.*938C=	ENSP00000512218.1:n.*938C=
XM_011517553.1:c.7969C=	XP_011515855.1:p.Arg2657=
XM_011517553.2:c.7969C=	XP_011515855.1:p.Arg2657=
XM_011517554.1:c.7969C=	XP_011515856.1:p.Arg2657=
XM_011517554.3:c.7969C=	XP_011515856.1:p.Arg2657=
XM_011517555.1:c.7966C=	XP_011515857.1:p.Arg2656=
XM_011517555.2:c.7966C=	XP_011515857.1:p.Arg2656=
XM_011517556.1:c.7747C=	XP_011515858.1:p.Arg2583=
XM_011517557.1:c.5956C=	XP_011515859.1:p.Arg1986=
XM_011517558.1:c.5506C=	XP_011515860.1:p.Arg1836=
XM_011517559.1:c.4714C=	XP_011515861.1:p.Arg1572=
XM_017013612.1:c.7969C=	XP_016869101.1:p.Arg2657=
XM_017013613.1:c.7876C=	XP_016869102.1:p.Arg2626=