Canonical Allele Identifier: CA1788129631

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865249A= , CM000670.2:g.60865249A=	GRCh38
NC_000008.10:g.61777808A= , CM000670.1:g.61777808A=	GRCh37
NC_000008.9:g.61940362A=	NCBI36
NG_007009.1:g.191470A= , LRG_176:g.191470A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1486A=
ENST00000695852.1:n.417A=
ENST00000695853.1:c.*1369A=	ENSP00000512218.1:n.*1369A=
ENST00000423902.7:c.8310A= MANE Select	ENSP00000392028.1:p.Ala2770=
ENST00000423902.6:c.8310A=	ENSP00000392028.1:p.Ala2770=
ENST00000524602.5:c.2163A=	ENSP00000437061.1:p.Ala721=
ENST00000528280.1:n.356A=
NM_001316690.1:c.2163A=	NP_001303619.1:p.Ala721=
NM_017780.3:c.8310A=	NP_060250.2:p.Ala2770=
XM_011517553.1:c.8400A=	XP_011515855.1:p.Ala2800=
XM_011517554.1:c.8400A=	XP_011515856.1:p.Ala2800=
XM_011517555.1:c.8397A=	XP_011515857.1:p.Ala2799=
XM_011517556.1:c.8178A=	XP_011515858.1:p.Ala2726=
XM_011517557.1:c.6387A=	XP_011515859.1:p.Ala2129=
XM_011517558.1:c.5937A=	XP_011515860.1:p.Ala1979=
XM_011517559.1:c.5145A=	XP_011515861.1:p.Ala1715=
XM_011517553.2:c.8400A=	XP_011515855.1:p.Ala2800=
XM_011517554.3:c.8400A=	XP_011515856.1:p.Ala2800=
XM_011517555.2:c.8397A=	XP_011515857.1:p.Ala2799=
XM_017013612.1:c.8400A=	XP_016869101.1:p.Ala2800=
XM_017013613.1:c.8307A=	XP_016869102.1:p.Ala2769=
NM_017780.4:c.8310A= MANE Select	NP_060250.2:p.Ala2770=