Canonical Allele Identifier: CA1788104811

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853354A= , CM000670.2:g.60853354A=	GRCh38
NC_000008.10:g.61765913A= , CM000670.1:g.61765913A=	GRCh37
NC_000008.9:g.61928467A=	NCBI36
NG_007009.1:g.179575A= , LRG_176:g.179575A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6629A=	ENSP00000512218.1:p.Glu2210=
ENST00000423902.7:c.6629A= MANE Select	ENSP00000392028.1:p.Glu2210=
ENST00000423902.6:c.6629A=	ENSP00000392028.1:p.Glu2210=
ENST00000524602.5:c.1717-8875A=	ENSP00000437061.1:n.1717-8875A=
NM_001316690.1:c.1717-8875A=	NP_001303619.1:n.1717-8875A=
NM_017780.3:c.6629A=	NP_060250.2:p.Glu2210=
XM_011517553.1:c.6719A=	XP_011515855.1:p.Glu2240=
XM_011517554.1:c.6719A=	XP_011515856.1:p.Glu2240=
XM_011517555.1:c.6719A=	XP_011515857.1:p.Glu2240=
XM_011517556.1:c.6719A=	XP_011515858.1:p.Glu2240=
XM_011517557.1:c.4706A=	XP_011515859.1:p.Glu1569=
XM_011517558.1:c.4256A=	XP_011515860.1:p.Glu1419=
XM_011517559.1:c.3464A=	XP_011515861.1:p.Glu1155=
XM_011517553.2:c.6719A=	XP_011515855.1:p.Glu2240=
XM_011517554.3:c.6719A=	XP_011515856.1:p.Glu2240=
XM_011517555.2:c.6719A=	XP_011515857.1:p.Glu2240=
XM_017013612.1:c.6719A=	XP_016869101.1:p.Glu2240=
XM_017013613.1:c.6629A=	XP_016869102.1:p.Glu2210=
NM_017780.4:c.6629A= MANE Select	NP_060250.2:p.Glu2210=