Canonical Allele Identifier: CA1788130161

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865376G= , CM000670.2:g.60865376G=	GRCh38
NC_000008.10:g.61777935G= , CM000670.1:g.61777935G=	GRCh37
NC_000008.9:g.61940489G=	NCBI36
NG_007009.1:g.191597G= , LRG_176:g.191597G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1613G=
ENST00000695852.1:n.544G=
ENST00000695853.1:c.*1496G=	ENSP00000512218.1:n.*1496G=
ENST00000423902.7:c.8437G= MANE Select	ENSP00000392028.1:p.Gly2813=
ENST00000423902.6:c.8437G=	ENSP00000392028.1:p.Gly2813=
ENST00000524602.5:c.2290G=	ENSP00000437061.1:p.Gly764=
ENST00000528280.1:n.483G=
NM_001316690.1:c.2290G=	NP_001303619.1:p.Gly764=
NM_017780.3:c.8437G=	NP_060250.2:p.Gly2813=
XM_011517553.1:c.8527G=	XP_011515855.1:p.Gly2843=
XM_011517554.1:c.8527G=	XP_011515856.1:p.Gly2843=
XM_011517555.1:c.8524G=	XP_011515857.1:p.Gly2842=
XM_011517556.1:c.8305G=	XP_011515858.1:p.Gly2769=
XM_011517557.1:c.6514G=	XP_011515859.1:p.Gly2172=
XM_011517558.1:c.6064G=	XP_011515860.1:p.Gly2022=
XM_011517559.1:c.5272G=	XP_011515861.1:p.Gly1758=
XM_011517553.2:c.8527G=	XP_011515855.1:p.Gly2843=
XM_011517554.3:c.8527G=	XP_011515856.1:p.Gly2843=
XM_011517555.2:c.8524G=	XP_011515857.1:p.Gly2842=
XM_017013612.1:c.8527G=	XP_016869101.1:p.Gly2843=
XM_017013613.1:c.8434G=	XP_016869102.1:p.Gly2812=
NM_017780.4:c.8437G= MANE Select	NP_060250.2:p.Gly2813=