Canonical Allele Identifier: CA1788120856

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861029T= , CM000670.2:g.60861029T=	GRCh38
NC_000008.10:g.61773588T= , CM000670.1:g.61773588T=	GRCh37
NC_000008.9:g.61936142T=	NCBI36
NG_007009.1:g.187250T= , LRG_176:g.187250T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.910T=
ENST00000695851.1:n.114T=
ENST00000695853.1:c.*793T=	ENSP00000512218.1:n.*793T=
ENST00000423902.7:c.7734T= MANE Select	ENSP00000392028.1:p.Thr2578=
ENST00000423902.6:c.7734T=	ENSP00000392028.1:p.Thr2578=
ENST00000524602.5:c.1717-1200T=	ENSP00000437061.1:n.1717-1200T=
ENST00000531695.1:n.158T=
ENST00000618450.1:n.126T=
NM_001316690.1:c.1717-1200T=	NP_001303619.1:n.1717-1200T=
NM_017780.3:c.7734T=	NP_060250.2:p.Thr2578=
XM_011517553.1:c.7824T=	XP_011515855.1:p.Thr2608=
XM_011517554.1:c.7824T=	XP_011515856.1:p.Thr2608=
XM_011517555.1:c.7821T=	XP_011515857.1:p.Thr2607=
XM_011517556.1:c.7699-1167T=	XP_011515858.1:n.7699-1167T=
XM_011517557.1:c.5811T=	XP_011515859.1:p.Thr1937=
XM_011517558.1:c.5361T=	XP_011515860.1:p.Thr1787=
XM_011517559.1:c.4569T=	XP_011515861.1:p.Thr1523=
XM_011517553.2:c.7824T=	XP_011515855.1:p.Thr2608=
XM_011517554.3:c.7824T=	XP_011515856.1:p.Thr2608=
XM_011517555.2:c.7821T=	XP_011515857.1:p.Thr2607=
XM_017013612.1:c.7824T=	XP_016869101.1:p.Thr2608=
XM_017013613.1:c.7731T=	XP_016869102.1:p.Thr2577=
NM_017780.4:c.7734T= MANE Select	NP_060250.2:p.Thr2578=