Canonical Allele Identifier: CA1788120599

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860950C= , CM000670.2:g.60860950C=	GRCh38
NC_000008.10:g.61773509C= , CM000670.1:g.61773509C=	GRCh37
NC_000008.9:g.61936063C=	NCBI36
NG_007009.1:g.187171C= , LRG_176:g.187171C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.831C=
ENST00000695851.1:n.35C=
ENST00000695853.1:c.*714C=	ENSP00000512218.1:n.*714C=
ENST00000423902.7:c.7655C= MANE Select	ENSP00000392028.1:p.Pro2552=
ENST00000423902.6:c.7655C=	ENSP00000392028.1:p.Pro2552=
ENST00000524602.5:c.1717-1279C=	ENSP00000437061.1:n.1717-1279C=
ENST00000531695.1:n.79C=
ENST00000618450.1:n.47C=
NM_001316690.1:c.1717-1279C=	NP_001303619.1:n.1717-1279C=
NM_017780.3:c.7655C=	NP_060250.2:p.Pro2552=
XM_011517553.1:c.7745C=	XP_011515855.1:p.Pro2582=
XM_011517554.1:c.7745C=	XP_011515856.1:p.Pro2582=
XM_011517555.1:c.7742C=	XP_011515857.1:p.Pro2581=
XM_011517556.1:c.7699-1246C=	XP_011515858.1:n.7699-1246C=
XM_011517557.1:c.5732C=	XP_011515859.1:p.Pro1911=
XM_011517558.1:c.5282C=	XP_011515860.1:p.Pro1761=
XM_011517559.1:c.4490C=	XP_011515861.1:p.Pro1497=
XM_011517553.2:c.7745C=	XP_011515855.1:p.Pro2582=
XM_011517554.3:c.7745C=	XP_011515856.1:p.Pro2582=
XM_011517555.2:c.7742C=	XP_011515857.1:p.Pro2581=
XM_017013612.1:c.7745C=	XP_016869101.1:p.Pro2582=
XM_017013613.1:c.7652C=	XP_016869102.1:p.Pro2551=
NM_017780.4:c.7655C= MANE Select	NP_060250.2:p.Pro2552=