Canonical Allele Identifier: CA1788120956

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861073A= , CM000670.2:g.60861073A=	GRCh38
NC_000008.10:g.61773632A= , CM000670.1:g.61773632A=	GRCh37
NC_000008.9:g.61936186A=	NCBI36
NG_007009.1:g.187294A= , LRG_176:g.187294A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.954A=
ENST00000695851.1:n.158A=
ENST00000695853.1:c.*837A=	ENSP00000512218.1:n.*837A=
ENST00000423902.7:c.7778A= MANE Select	ENSP00000392028.1:p.Glu2593=
ENST00000423902.6:c.7778A=	ENSP00000392028.1:p.Glu2593=
ENST00000524602.5:c.1717-1156A=	ENSP00000437061.1:n.1717-1156A=
ENST00000531695.1:n.202A=
ENST00000618450.1:n.170A=
NM_001316690.1:c.1717-1156A=	NP_001303619.1:n.1717-1156A=
NM_017780.3:c.7778A=	NP_060250.2:p.Glu2593=
XM_011517553.1:c.7868A=	XP_011515855.1:p.Glu2623=
XM_011517554.1:c.7868A=	XP_011515856.1:p.Glu2623=
XM_011517555.1:c.7865A=	XP_011515857.1:p.Glu2622=
XM_011517556.1:c.7699-1123A=	XP_011515858.1:n.7699-1123A=
XM_011517557.1:c.5855A=	XP_011515859.1:p.Glu1952=
XM_011517558.1:c.5405A=	XP_011515860.1:p.Glu1802=
XM_011517559.1:c.4613A=	XP_011515861.1:p.Glu1538=
XM_011517553.2:c.7868A=	XP_011515855.1:p.Glu2623=
XM_011517554.3:c.7868A=	XP_011515856.1:p.Glu2623=
XM_011517555.2:c.7865A=	XP_011515857.1:p.Glu2622=
XM_017013612.1:c.7868A=	XP_016869101.1:p.Glu2623=
XM_017013613.1:c.7775A=	XP_016869102.1:p.Glu2592=
NM_017780.4:c.7778A= MANE Select	NP_060250.2:p.Glu2593=