Canonical Allele Identifier: CA1788120760

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860987C= , CM000670.2:g.60860987C=	GRCh38
NC_000008.10:g.61773546C= , CM000670.1:g.61773546C=	GRCh37
NC_000008.9:g.61936100C=	NCBI36
NG_007009.1:g.187208C= , LRG_176:g.187208C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.868C=
ENST00000695851.1:n.72C=
ENST00000695853.1:c.*751C=	ENSP00000512218.1:n.*751C=
ENST00000423902.7:c.7692C= MANE Select	ENSP00000392028.1:p.Asp2564=
ENST00000423902.6:c.7692C=	ENSP00000392028.1:p.Asp2564=
ENST00000524602.5:c.1717-1242C=	ENSP00000437061.1:n.1717-1242C=
ENST00000531695.1:n.116C=
ENST00000618450.1:n.84C=
NM_001316690.1:c.1717-1242C=	NP_001303619.1:n.1717-1242C=
NM_017780.3:c.7692C=	NP_060250.2:p.Asp2564=
XM_011517553.1:c.7782C=	XP_011515855.1:p.Asp2594=
XM_011517554.1:c.7782C=	XP_011515856.1:p.Asp2594=
XM_011517555.1:c.7779C=	XP_011515857.1:p.Asp2593=
XM_011517556.1:c.7699-1209C=	XP_011515858.1:n.7699-1209C=
XM_011517557.1:c.5769C=	XP_011515859.1:p.Asp1923=
XM_011517558.1:c.5319C=	XP_011515860.1:p.Asp1773=
XM_011517559.1:c.4527C=	XP_011515861.1:p.Asp1509=
XM_011517553.2:c.7782C=	XP_011515855.1:p.Asp2594=
XM_011517554.3:c.7782C=	XP_011515856.1:p.Asp2594=
XM_011517555.2:c.7779C=	XP_011515857.1:p.Asp2593=
XM_017013612.1:c.7782C=	XP_016869101.1:p.Asp2594=
XM_017013613.1:c.7689C=	XP_016869102.1:p.Asp2563=
NM_017780.4:c.7692C= MANE Select	NP_060250.2:p.Asp2564=