Canonical Allele Identifier: CA1788120822

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861013A= , CM000670.2:g.60861013A=	GRCh38
NC_000008.10:g.61773572A= , CM000670.1:g.61773572A=	GRCh37
NC_000008.9:g.61936126A=	NCBI36
NG_007009.1:g.187234A= , LRG_176:g.187234A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.894A=
ENST00000695851.1:n.98A=
ENST00000695853.1:c.*777A=	ENSP00000512218.1:n.*777A=
ENST00000423902.7:c.7718A= MANE Select	ENSP00000392028.1:p.Asn2573=
ENST00000423902.6:c.7718A=	ENSP00000392028.1:p.Asn2573=
ENST00000524602.5:c.1717-1216A=	ENSP00000437061.1:n.1717-1216A=
ENST00000531695.1:n.142A=
ENST00000618450.1:n.110A=
NM_001316690.1:c.1717-1216A=	NP_001303619.1:n.1717-1216A=
NM_017780.3:c.7718A=	NP_060250.2:p.Asn2573=
XM_011517553.1:c.7808A=	XP_011515855.1:p.Asn2603=
XM_011517554.1:c.7808A=	XP_011515856.1:p.Asn2603=
XM_011517555.1:c.7805A=	XP_011515857.1:p.Asn2602=
XM_011517556.1:c.7699-1183A=	XP_011515858.1:n.7699-1183A=
XM_011517557.1:c.5795A=	XP_011515859.1:p.Asn1932=
XM_011517558.1:c.5345A=	XP_011515860.1:p.Asn1782=
XM_011517559.1:c.4553A=	XP_011515861.1:p.Asn1518=
XM_011517553.2:c.7808A=	XP_011515855.1:p.Asn2603=
XM_011517554.3:c.7808A=	XP_011515856.1:p.Asn2603=
XM_011517555.2:c.7805A=	XP_011515857.1:p.Asn2602=
XM_017013612.1:c.7808A=	XP_016869101.1:p.Asn2603=
XM_017013613.1:c.7715A=	XP_016869102.1:p.Asn2572=
NM_017780.4:c.7718A= MANE Select	NP_060250.2:p.Asn2573=