Canonical Allele Identifier: CA1788120627

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860959G= , CM000670.2:g.60860959G=	GRCh38
NC_000008.10:g.61773518G= , CM000670.1:g.61773518G=	GRCh37
NC_000008.9:g.61936072G=	NCBI36
NG_007009.1:g.187180G= , LRG_176:g.187180G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.840G=
ENST00000695851.1:n.44G=
ENST00000695853.1:c.*723G=	ENSP00000512218.1:n.*723G=
ENST00000423902.7:c.7664G= MANE Select	ENSP00000392028.1:p.Arg2555=
ENST00000423902.6:c.7664G=	ENSP00000392028.1:p.Arg2555=
ENST00000524602.5:c.1717-1270G=	ENSP00000437061.1:n.1717-1270G=
ENST00000531695.1:n.88G=
ENST00000618450.1:n.56G=
NM_001316690.1:c.1717-1270G=	NP_001303619.1:n.1717-1270G=
NM_017780.3:c.7664G=	NP_060250.2:p.Arg2555=
XM_011517553.1:c.7754G=	XP_011515855.1:p.Arg2585=
XM_011517554.1:c.7754G=	XP_011515856.1:p.Arg2585=
XM_011517555.1:c.7751G=	XP_011515857.1:p.Arg2584=
XM_011517556.1:c.7699-1237G=	XP_011515858.1:n.7699-1237G=
XM_011517557.1:c.5741G=	XP_011515859.1:p.Arg1914=
XM_011517558.1:c.5291G=	XP_011515860.1:p.Arg1764=
XM_011517559.1:c.4499G=	XP_011515861.1:p.Arg1500=
XM_011517553.2:c.7754G=	XP_011515855.1:p.Arg2585=
XM_011517554.3:c.7754G=	XP_011515856.1:p.Arg2585=
XM_011517555.2:c.7751G=	XP_011515857.1:p.Arg2584=
XM_017013612.1:c.7754G=	XP_016869101.1:p.Arg2585=
XM_017013613.1:c.7661G=	XP_016869102.1:p.Arg2554=
NM_017780.4:c.7664G= MANE Select	NP_060250.2:p.Arg2555=