Canonical Allele Identifier: CA1788120843

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861022A= , CM000670.2:g.60861022A=	GRCh38
NC_000008.10:g.61773581A= , CM000670.1:g.61773581A=	GRCh37
NC_000008.9:g.61936135A=	NCBI36
NG_007009.1:g.187243A= , LRG_176:g.187243A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.903A=
ENST00000695851.1:n.107A=
ENST00000695853.1:c.*786A=	ENSP00000512218.1:n.*786A=
ENST00000423902.7:c.7727A= MANE Select	ENSP00000392028.1:p.Asp2576=
ENST00000423902.6:c.7727A=	ENSP00000392028.1:p.Asp2576=
ENST00000524602.5:c.1717-1207A=	ENSP00000437061.1:n.1717-1207A=
ENST00000531695.1:n.151A=
ENST00000618450.1:n.119A=
NM_001316690.1:c.1717-1207A=	NP_001303619.1:n.1717-1207A=
NM_017780.3:c.7727A=	NP_060250.2:p.Asp2576=
XM_011517553.1:c.7817A=	XP_011515855.1:p.Asp2606=
XM_011517554.1:c.7817A=	XP_011515856.1:p.Asp2606=
XM_011517555.1:c.7814A=	XP_011515857.1:p.Asp2605=
XM_011517556.1:c.7699-1174A=	XP_011515858.1:n.7699-1174A=
XM_011517557.1:c.5804A=	XP_011515859.1:p.Asp1935=
XM_011517558.1:c.5354A=	XP_011515860.1:p.Asp1785=
XM_011517559.1:c.4562A=	XP_011515861.1:p.Asp1521=
XM_011517553.2:c.7817A=	XP_011515855.1:p.Asp2606=
XM_011517554.3:c.7817A=	XP_011515856.1:p.Asp2606=
XM_011517555.2:c.7814A=	XP_011515857.1:p.Asp2605=
XM_017013612.1:c.7817A=	XP_016869101.1:p.Asp2606=
XM_017013613.1:c.7724A=	XP_016869102.1:p.Asp2575=
NM_017780.4:c.7727A= MANE Select	NP_060250.2:p.Asp2576=