Canonical Allele Identifier: CA1788129535

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865225G= , CM000670.2:g.60865225G=	GRCh38
NC_000008.10:g.61777784G= , CM000670.1:g.61777784G=	GRCh37
NC_000008.9:g.61940338G=	NCBI36
NG_007009.1:g.191446G= , LRG_176:g.191446G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1462G=
ENST00000695852.1:n.393G=
ENST00000695853.1:c.*1345G=	ENSP00000512218.1:n.*1345G=
ENST00000423902.7:c.8286G= MANE Select	ENSP00000392028.1:p.Gln2762=
ENST00000423902.6:c.8286G=	ENSP00000392028.1:p.Gln2762=
ENST00000524602.5:c.2139G=	ENSP00000437061.1:p.Gln713=
ENST00000528280.1:n.332G=
NM_001316690.1:c.2139G=	NP_001303619.1:p.Gln713=
NM_017780.3:c.8286G=	NP_060250.2:p.Gln2762=
XM_011517553.1:c.8376G=	XP_011515855.1:p.Gln2792=
XM_011517554.1:c.8376G=	XP_011515856.1:p.Gln2792=
XM_011517555.1:c.8373G=	XP_011515857.1:p.Gln2791=
XM_011517556.1:c.8154G=	XP_011515858.1:p.Gln2718=
XM_011517557.1:c.6363G=	XP_011515859.1:p.Gln2121=
XM_011517558.1:c.5913G=	XP_011515860.1:p.Gln1971=
XM_011517559.1:c.5121G=	XP_011515861.1:p.Gln1707=
XM_011517553.2:c.8376G=	XP_011515855.1:p.Gln2792=
XM_011517554.3:c.8376G=	XP_011515856.1:p.Gln2792=
XM_011517555.2:c.8373G=	XP_011515857.1:p.Gln2791=
XM_017013612.1:c.8376G=	XP_016869101.1:p.Gln2792=
XM_017013613.1:c.8283G=	XP_016869102.1:p.Gln2761=
NM_017780.4:c.8286G= MANE Select	NP_060250.2:p.Gln2762=