Canonical Allele Identifier: CA1788104502

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853298A= , CM000670.2:g.60853298A=	GRCh38
NC_000008.10:g.61765857A= , CM000670.1:g.61765857A=	GRCh37
NC_000008.9:g.61928411A=	NCBI36
NG_007009.1:g.179519A= , LRG_176:g.179519A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6573A=	ENSP00000512218.1:p.Glu2191=
ENST00000423902.7:c.6573A= MANE Select	ENSP00000392028.1:p.Glu2191=
ENST00000423902.6:c.6573A=	ENSP00000392028.1:p.Glu2191=
ENST00000524602.5:c.1717-8931A=	ENSP00000437061.1:n.1717-8931A=
NM_001316690.1:c.1717-8931A=	NP_001303619.1:n.1717-8931A=
NM_017780.3:c.6573A=	NP_060250.2:p.Glu2191=
XM_011517553.1:c.6663A=	XP_011515855.1:p.Glu2221=
XM_011517554.1:c.6663A=	XP_011515856.1:p.Glu2221=
XM_011517555.1:c.6663A=	XP_011515857.1:p.Glu2221=
XM_011517556.1:c.6663A=	XP_011515858.1:p.Glu2221=
XM_011517557.1:c.4650A=	XP_011515859.1:p.Glu1550=
XM_011517558.1:c.4200A=	XP_011515860.1:p.Glu1400=
XM_011517559.1:c.3408A=	XP_011515861.1:p.Glu1136=
XM_011517553.2:c.6663A=	XP_011515855.1:p.Glu2221=
XM_011517554.3:c.6663A=	XP_011515856.1:p.Glu2221=
XM_011517555.2:c.6663A=	XP_011515857.1:p.Glu2221=
XM_017013612.1:c.6663A=	XP_016869101.1:p.Glu2221=
XM_017013613.1:c.6573A=	XP_016869102.1:p.Glu2191=
NM_017780.4:c.6573A= MANE Select	NP_060250.2:p.Glu2191=