Canonical Allele Identifier: CA1788129259

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865133G= , CM000670.2:g.60865133G=	GRCh38
NC_000008.10:g.61777692G= , CM000670.1:g.61777692G=	GRCh37
NC_000008.9:g.61940246G=	NCBI36
NG_007009.1:g.191354G= , LRG_176:g.191354G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1370G=
ENST00000695852.1:n.301G=
ENST00000695853.1:c.*1253G=	ENSP00000512218.1:n.*1253G=
ENST00000423902.7:c.8194G= MANE Select	ENSP00000392028.1:p.Ala2732=
ENST00000423902.6:c.8194G=	ENSP00000392028.1:p.Ala2732=
ENST00000524602.5:c.2047G=	ENSP00000437061.1:p.Ala683=
ENST00000528280.1:n.240G=
ENST00000532149.1:n.616G=
NM_001316690.1:c.2047G=	NP_001303619.1:p.Ala683=
NM_017780.3:c.8194G=	NP_060250.2:p.Ala2732=
XM_011517553.1:c.8284G=	XP_011515855.1:p.Ala2762=
XM_011517554.1:c.8284G=	XP_011515856.1:p.Ala2762=
XM_011517555.1:c.8281G=	XP_011515857.1:p.Ala2761=
XM_011517556.1:c.8062G=	XP_011515858.1:p.Ala2688=
XM_011517557.1:c.6271G=	XP_011515859.1:p.Ala2091=
XM_011517558.1:c.5821G=	XP_011515860.1:p.Ala1941=
XM_011517559.1:c.5029G=	XP_011515861.1:p.Ala1677=
XM_011517553.2:c.8284G=	XP_011515855.1:p.Ala2762=
XM_011517554.3:c.8284G=	XP_011515856.1:p.Ala2762=
XM_011517555.2:c.8281G=	XP_011515857.1:p.Ala2761=
XM_017013612.1:c.8284G=	XP_016869101.1:p.Ala2762=
XM_017013613.1:c.8191G=	XP_016869102.1:p.Ala2731=
NM_017780.4:c.8194G= MANE Select	NP_060250.2:p.Ala2732=