Canonical Allele Identifier: CA1788111966

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856487A= , CM000670.2:g.60856487A=	GRCh38
NC_000008.10:g.61769046A= , CM000670.1:g.61769046A=	GRCh37
NC_000008.9:g.61931600A=	NCBI36
NG_007009.1:g.182708A= , LRG_176:g.182708A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.383A=
ENST00000695853.1:c.*266A=	ENSP00000512218.1:n.*266A=
ENST00000423902.7:c.7207A= MANE Select	ENSP00000392028.1:p.Arg2403=
ENST00000423902.6:c.7207A=	ENSP00000392028.1:p.Arg2403=
ENST00000524602.5:c.1717-5742A=	ENSP00000437061.1:n.1717-5742A=
ENST00000529472.1:n.388A=
NM_001316690.1:c.1717-5742A=	NP_001303619.1:n.1717-5742A=
NM_017780.3:c.7207A=	NP_060250.2:p.Arg2403=
XM_011517553.1:c.7297A=	XP_011515855.1:p.Arg2433=
XM_011517554.1:c.7297A=	XP_011515856.1:p.Arg2433=
XM_011517555.1:c.7294A=	XP_011515857.1:p.Arg2432=
XM_011517556.1:c.7297A=	XP_011515858.1:p.Arg2433=
XM_011517557.1:c.5284A=	XP_011515859.1:p.Arg1762=
XM_011517558.1:c.4834A=	XP_011515860.1:p.Arg1612=
XM_011517559.1:c.4042A=	XP_011515861.1:p.Arg1348=
XM_011517553.2:c.7297A=	XP_011515855.1:p.Arg2433=
XM_011517554.3:c.7297A=	XP_011515856.1:p.Arg2433=
XM_011517555.2:c.7294A=	XP_011515857.1:p.Arg2432=
XM_017013612.1:c.7297A=	XP_016869101.1:p.Arg2433=
XM_017013613.1:c.7204A=	XP_016869102.1:p.Arg2402=
NM_017780.4:c.7207A= MANE Select	NP_060250.2:p.Arg2403=