Canonical Allele Identifier: CA1788101514

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852621A= , CM000670.2:g.60852621A=	GRCh38
NC_000008.10:g.61765180A= , CM000670.1:g.61765180A=	GRCh37
NC_000008.9:g.61927734A=	NCBI36
NG_007009.1:g.178842A= , LRG_176:g.178842A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6018A=	ENSP00000512218.1:p.Lys2006=
ENST00000423902.7:c.6018A= MANE Select	ENSP00000392028.1:p.Lys2006=
ENST00000423902.6:c.6018A=	ENSP00000392028.1:p.Lys2006=
ENST00000524602.5:c.1717-9608A=	ENSP00000437061.1:n.1717-9608A=
ENST00000527921.1:n.509A=
NM_001316690.1:c.1717-9608A=	NP_001303619.1:n.1717-9608A=
NM_017780.3:c.6018A=	NP_060250.2:p.Lys2006=
XM_011517553.1:c.6108A=	XP_011515855.1:p.Lys2036=
XM_011517554.1:c.6108A=	XP_011515856.1:p.Lys2036=
XM_011517555.1:c.6108A=	XP_011515857.1:p.Lys2036=
XM_011517556.1:c.6108A=	XP_011515858.1:p.Lys2036=
XM_011517557.1:c.4095A=	XP_011515859.1:p.Lys1365=
XM_011517558.1:c.3645A=	XP_011515860.1:p.Lys1215=
XM_011517559.1:c.2853A=	XP_011515861.1:p.Lys951=
XM_011517553.2:c.6108A=	XP_011515855.1:p.Lys2036=
XM_011517554.3:c.6108A=	XP_011515856.1:p.Lys2036=
XM_011517555.2:c.6108A=	XP_011515857.1:p.Lys2036=
XM_017013612.1:c.6108A=	XP_016869101.1:p.Lys2036=
XM_017013613.1:c.6018A=	XP_016869102.1:p.Lys2006=
NM_017780.4:c.6018A= MANE Select	NP_060250.2:p.Lys2006=