Canonical Allele Identifier: CA1788129199

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865119G= , CM000670.2:g.60865119G=	GRCh38
NC_000008.10:g.61777678G= , CM000670.1:g.61777678G=	GRCh37
NC_000008.9:g.61940232G=	NCBI36
NG_007009.1:g.191340G= , LRG_176:g.191340G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1356G=
ENST00000695852.1:n.287G=
ENST00000695853.1:c.*1239G=	ENSP00000512218.1:n.*1239G=
ENST00000423902.7:c.8180G= MANE Select	ENSP00000392028.1:p.Arg2727=
ENST00000423902.6:c.8180G=	ENSP00000392028.1:p.Arg2727=
ENST00000524602.5:c.2033G=	ENSP00000437061.1:p.Arg678=
ENST00000528280.1:n.226G=
ENST00000532149.1:n.602G=
ENST00000618450.1:n.4216G=
NM_001316690.1:c.2033G=	NP_001303619.1:p.Arg678=
NM_017780.3:c.8180G=	NP_060250.2:p.Arg2727=
XM_011517553.1:c.8270G=	XP_011515855.1:p.Arg2757=
XM_011517554.1:c.8270G=	XP_011515856.1:p.Arg2757=
XM_011517555.1:c.8267G=	XP_011515857.1:p.Arg2756=
XM_011517556.1:c.8048G=	XP_011515858.1:p.Arg2683=
XM_011517557.1:c.6257G=	XP_011515859.1:p.Arg2086=
XM_011517558.1:c.5807G=	XP_011515860.1:p.Arg1936=
XM_011517559.1:c.5015G=	XP_011515861.1:p.Arg1672=
XM_011517553.2:c.8270G=	XP_011515855.1:p.Arg2757=
XM_011517554.3:c.8270G=	XP_011515856.1:p.Arg2757=
XM_011517555.2:c.8267G=	XP_011515857.1:p.Arg2756=
XM_017013612.1:c.8270G=	XP_016869101.1:p.Arg2757=
XM_017013613.1:c.8177G=	XP_016869102.1:p.Arg2726=
NM_017780.4:c.8180G= MANE Select	NP_060250.2:p.Arg2727=