Canonical Allele Identifier: CA1788120422

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860906G= , CM000670.2:g.60860906G=	GRCh38
NC_000008.10:g.61773465G= , CM000670.1:g.61773465G=	GRCh37
NC_000008.9:g.61936019G=	NCBI36
NG_007009.1:g.187127G= , LRG_176:g.187127G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.787G=
ENST00000695853.1:c.*670G=	ENSP00000512218.1:n.*670G=
ENST00000423902.7:c.7611G= MANE Select	ENSP00000392028.1:p.Glu2537=
ENST00000423902.6:c.7611G=	ENSP00000392028.1:p.Glu2537=
ENST00000524602.5:c.1717-1323G=	ENSP00000437061.1:n.1717-1323G=
ENST00000531695.1:n.35G=
ENST00000618450.1:n.3G=
NM_001316690.1:c.1717-1323G=	NP_001303619.1:n.1717-1323G=
NM_017780.3:c.7611G=	NP_060250.2:p.Glu2537=
XM_011517553.1:c.7701G=	XP_011515855.1:p.Glu2567=
XM_011517554.1:c.7701G=	XP_011515856.1:p.Glu2567=
XM_011517555.1:c.7698G=	XP_011515857.1:p.Glu2566=
XM_011517556.1:c.7699-1290G=	XP_011515858.1:n.7699-1290G=
XM_011517557.1:c.5688G=	XP_011515859.1:p.Glu1896=
XM_011517558.1:c.5238G=	XP_011515860.1:p.Glu1746=
XM_011517559.1:c.4446G=	XP_011515861.1:p.Glu1482=
XM_011517553.2:c.7701G=	XP_011515855.1:p.Glu2567=
XM_011517554.3:c.7701G=	XP_011515856.1:p.Glu2567=
XM_011517555.2:c.7698G=	XP_011515857.1:p.Glu2566=
XM_017013612.1:c.7701G=	XP_016869101.1:p.Glu2567=
XM_017013613.1:c.7608G=	XP_016869102.1:p.Glu2536=
NM_017780.4:c.7611G= MANE Select	NP_060250.2:p.Glu2537=