Canonical Allele Identifier: CA1788129909

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865314C= , CM000670.2:g.60865314C=	GRCh38
NC_000008.10:g.61777873C= , CM000670.1:g.61777873C=	GRCh37
NC_000008.9:g.61940427C=	NCBI36
NG_007009.1:g.191535C= , LRG_176:g.191535C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1551C=
ENST00000695852.1:n.482C=
ENST00000695853.1:c.*1434C=	ENSP00000512218.1:n.*1434C=
ENST00000423902.7:c.8375C= MANE Select	ENSP00000392028.1:p.Pro2792=
ENST00000423902.6:c.8375C=	ENSP00000392028.1:p.Pro2792=
ENST00000524602.5:c.2228C=	ENSP00000437061.1:p.Pro743=
ENST00000528280.1:n.421C=
NM_001316690.1:c.2228C=	NP_001303619.1:p.Pro743=
NM_017780.3:c.8375C=	NP_060250.2:p.Pro2792=
XM_011517553.1:c.8465C=	XP_011515855.1:p.Pro2822=
XM_011517554.1:c.8465C=	XP_011515856.1:p.Pro2822=
XM_011517555.1:c.8462C=	XP_011515857.1:p.Pro2821=
XM_011517556.1:c.8243C=	XP_011515858.1:p.Pro2748=
XM_011517557.1:c.6452C=	XP_011515859.1:p.Pro2151=
XM_011517558.1:c.6002C=	XP_011515860.1:p.Pro2001=
XM_011517559.1:c.5210C=	XP_011515861.1:p.Pro1737=
XM_011517553.2:c.8465C=	XP_011515855.1:p.Pro2822=
XM_011517554.3:c.8465C=	XP_011515856.1:p.Pro2822=
XM_011517555.2:c.8462C=	XP_011515857.1:p.Pro2821=
XM_017013612.1:c.8465C=	XP_016869101.1:p.Pro2822=
XM_017013613.1:c.8372C=	XP_016869102.1:p.Pro2791=
NM_017780.4:c.8375C= MANE Select	NP_060250.2:p.Pro2792=