Canonical Allele Identifier: CA1788120514

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860937G= , CM000670.2:g.60860937G=	GRCh38
NC_000008.10:g.61773496G= , CM000670.1:g.61773496G=	GRCh37
NC_000008.9:g.61936050G=	NCBI36
NG_007009.1:g.187158G= , LRG_176:g.187158G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.818G=
ENST00000695851.1:n.22G=
ENST00000695853.1:c.*701G=	ENSP00000512218.1:n.*701G=
ENST00000423902.7:c.7642G= MANE Select	ENSP00000392028.1:p.Asp2548=
ENST00000423902.6:c.7642G=	ENSP00000392028.1:p.Asp2548=
ENST00000524602.5:c.1717-1292G=	ENSP00000437061.1:n.1717-1292G=
ENST00000531695.1:n.66G=
ENST00000618450.1:n.34G=
NM_001316690.1:c.1717-1292G=	NP_001303619.1:n.1717-1292G=
NM_017780.3:c.7642G=	NP_060250.2:p.Asp2548=
XM_011517553.1:c.7732G=	XP_011515855.1:p.Asp2578=
XM_011517554.1:c.7732G=	XP_011515856.1:p.Asp2578=
XM_011517555.1:c.7729G=	XP_011515857.1:p.Asp2577=
XM_011517556.1:c.7699-1259G=	XP_011515858.1:n.7699-1259G=
XM_011517557.1:c.5719G=	XP_011515859.1:p.Asp1907=
XM_011517558.1:c.5269G=	XP_011515860.1:p.Asp1757=
XM_011517559.1:c.4477G=	XP_011515861.1:p.Asp1493=
XM_011517553.2:c.7732G=	XP_011515855.1:p.Asp2578=
XM_011517554.3:c.7732G=	XP_011515856.1:p.Asp2578=
XM_011517555.2:c.7729G=	XP_011515857.1:p.Asp2577=
XM_017013612.1:c.7732G=	XP_016869101.1:p.Asp2578=
XM_017013613.1:c.7639G=	XP_016869102.1:p.Asp2547=
NM_017780.4:c.7642G= MANE Select	NP_060250.2:p.Asp2548=