Canonical Allele Identifier: CA1788129489

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865216G= , CM000670.2:g.60865216G=	GRCh38
NC_000008.10:g.61777775G= , CM000670.1:g.61777775G=	GRCh37
NC_000008.9:g.61940329G=	NCBI36
NG_007009.1:g.191437G= , LRG_176:g.191437G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1453G=
ENST00000695852.1:n.384G=
ENST00000695853.1:c.*1336G=	ENSP00000512218.1:n.*1336G=
ENST00000423902.7:c.8277G= MANE Select	ENSP00000392028.1:p.Gln2759=
ENST00000423902.6:c.8277G=	ENSP00000392028.1:p.Gln2759=
ENST00000524602.5:c.2130G=	ENSP00000437061.1:p.Gln710=
ENST00000528280.1:n.323G=
NM_001316690.1:c.2130G=	NP_001303619.1:p.Gln710=
NM_017780.3:c.8277G=	NP_060250.2:p.Gln2759=
XM_011517553.1:c.8367G=	XP_011515855.1:p.Gln2789=
XM_011517554.1:c.8367G=	XP_011515856.1:p.Gln2789=
XM_011517555.1:c.8364G=	XP_011515857.1:p.Gln2788=
XM_011517556.1:c.8145G=	XP_011515858.1:p.Gln2715=
XM_011517557.1:c.6354G=	XP_011515859.1:p.Gln2118=
XM_011517558.1:c.5904G=	XP_011515860.1:p.Gln1968=
XM_011517559.1:c.5112G=	XP_011515861.1:p.Gln1704=
XM_011517553.2:c.8367G=	XP_011515855.1:p.Gln2789=
XM_011517554.3:c.8367G=	XP_011515856.1:p.Gln2789=
XM_011517555.2:c.8364G=	XP_011515857.1:p.Gln2788=
XM_017013612.1:c.8367G=	XP_016869101.1:p.Gln2789=
XM_017013613.1:c.8274G=	XP_016869102.1:p.Gln2758=
NM_017780.4:c.8277G= MANE Select	NP_060250.2:p.Gln2759=