Canonical Allele Identifier: CA1788129217

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865126C= , CM000670.2:g.60865126C=	GRCh38
NC_000008.10:g.61777685C= , CM000670.1:g.61777685C=	GRCh37
NC_000008.9:g.61940239C=	NCBI36
NG_007009.1:g.191347C= , LRG_176:g.191347C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1363C=
ENST00000695852.1:n.294C=
ENST00000695853.1:c.*1246C=	ENSP00000512218.1:n.*1246C=
ENST00000423902.7:c.8187C= MANE Select	ENSP00000392028.1:p.Ala2729=
ENST00000423902.6:c.8187C=	ENSP00000392028.1:p.Ala2729=
ENST00000524602.5:c.2040C=	ENSP00000437061.1:p.Ala680=
ENST00000528280.1:n.233C=
ENST00000532149.1:n.609C=
NM_001316690.1:c.2040C=	NP_001303619.1:p.Ala680=
NM_017780.3:c.8187C=	NP_060250.2:p.Ala2729=
XM_011517553.1:c.8277C=	XP_011515855.1:p.Ala2759=
XM_011517554.1:c.8277C=	XP_011515856.1:p.Ala2759=
XM_011517555.1:c.8274C=	XP_011515857.1:p.Ala2758=
XM_011517556.1:c.8055C=	XP_011515858.1:p.Ala2685=
XM_011517557.1:c.6264C=	XP_011515859.1:p.Ala2088=
XM_011517558.1:c.5814C=	XP_011515860.1:p.Ala1938=
XM_011517559.1:c.5022C=	XP_011515861.1:p.Ala1674=
XM_011517553.2:c.8277C=	XP_011515855.1:p.Ala2759=
XM_011517554.3:c.8277C=	XP_011515856.1:p.Ala2759=
XM_011517555.2:c.8274C=	XP_011515857.1:p.Ala2758=
XM_017013612.1:c.8277C=	XP_016869101.1:p.Ala2759=
XM_017013613.1:c.8184C=	XP_016869102.1:p.Ala2728=
NM_017780.4:c.8187C= MANE Select	NP_060250.2:p.Ala2729=