Canonical Allele Identifier: CA1788130046

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865354C= , CM000670.2:g.60865354C=	GRCh38
NC_000008.10:g.61777913C= , CM000670.1:g.61777913C=	GRCh37
NC_000008.9:g.61940467C=	NCBI36
NG_007009.1:g.191575C= , LRG_176:g.191575C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1591C=
ENST00000695852.1:n.522C=
ENST00000695853.1:c.*1474C=	ENSP00000512218.1:n.*1474C=
ENST00000423902.7:c.8415C= MANE Select	ENSP00000392028.1:p.Gly2805=
ENST00000423902.6:c.8415C=	ENSP00000392028.1:p.Gly2805=
ENST00000524602.5:c.2268C=	ENSP00000437061.1:p.Gly756=
ENST00000528280.1:n.461C=
NM_001316690.1:c.2268C=	NP_001303619.1:p.Gly756=
NM_017780.3:c.8415C=	NP_060250.2:p.Gly2805=
XM_011517553.1:c.8505C=	XP_011515855.1:p.Gly2835=
XM_011517554.1:c.8505C=	XP_011515856.1:p.Gly2835=
XM_011517555.1:c.8502C=	XP_011515857.1:p.Gly2834=
XM_011517556.1:c.8283C=	XP_011515858.1:p.Gly2761=
XM_011517557.1:c.6492C=	XP_011515859.1:p.Gly2164=
XM_011517558.1:c.6042C=	XP_011515860.1:p.Gly2014=
XM_011517559.1:c.5250C=	XP_011515861.1:p.Gly1750=
XM_011517553.2:c.8505C=	XP_011515855.1:p.Gly2835=
XM_011517554.3:c.8505C=	XP_011515856.1:p.Gly2835=
XM_011517555.2:c.8502C=	XP_011515857.1:p.Gly2834=
XM_017013612.1:c.8505C=	XP_016869101.1:p.Gly2835=
XM_017013613.1:c.8412C=	XP_016869102.1:p.Gly2804=
NM_017780.4:c.8415C= MANE Select	NP_060250.2:p.Gly2805=