Canonical Allele Identifier: CA1788120744

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860977G= , CM000670.2:g.60860977G=	GRCh38
NC_000008.10:g.61773536G= , CM000670.1:g.61773536G=	GRCh37
NC_000008.9:g.61936090G=	NCBI36
NG_007009.1:g.187198G= , LRG_176:g.187198G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.858G=
ENST00000695851.1:n.62G=
ENST00000695853.1:c.*741G=	ENSP00000512218.1:n.*741G=
ENST00000423902.7:c.7682G= MANE Select	ENSP00000392028.1:p.Gly2561=
ENST00000423902.6:c.7682G=	ENSP00000392028.1:p.Gly2561=
ENST00000524602.5:c.1717-1252G=	ENSP00000437061.1:n.1717-1252G=
ENST00000531695.1:n.106G=
ENST00000618450.1:n.74G=
NM_001316690.1:c.1717-1252G=	NP_001303619.1:n.1717-1252G=
NM_017780.3:c.7682G=	NP_060250.2:p.Gly2561=
XM_011517553.1:c.7772G=	XP_011515855.1:p.Gly2591=
XM_011517554.1:c.7772G=	XP_011515856.1:p.Gly2591=
XM_011517555.1:c.7769G=	XP_011515857.1:p.Gly2590=
XM_011517556.1:c.7699-1219G=	XP_011515858.1:n.7699-1219G=
XM_011517557.1:c.5759G=	XP_011515859.1:p.Gly1920=
XM_011517558.1:c.5309G=	XP_011515860.1:p.Gly1770=
XM_011517559.1:c.4517G=	XP_011515861.1:p.Gly1506=
XM_011517553.2:c.7772G=	XP_011515855.1:p.Gly2591=
XM_011517554.3:c.7772G=	XP_011515856.1:p.Gly2591=
XM_011517555.2:c.7769G=	XP_011515857.1:p.Gly2590=
XM_017013612.1:c.7772G=	XP_016869101.1:p.Gly2591=
XM_017013613.1:c.7679G=	XP_016869102.1:p.Gly2560=
NM_017780.4:c.7682G= MANE Select	NP_060250.2:p.Gly2561=