Canonical Allele Identifier: CA1788129149

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865103A= , CM000670.2:g.60865103A=	GRCh38
NC_000008.10:g.61777662A= , CM000670.1:g.61777662A=	GRCh37
NC_000008.9:g.61940216A=	NCBI36
NG_007009.1:g.191324A= , LRG_176:g.191324A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1340A=
ENST00000695852.1:n.271A=
ENST00000695853.1:c.*1223A=	ENSP00000512218.1:n.*1223A=
ENST00000423902.7:c.8164A= MANE Select	ENSP00000392028.1:p.Lys2722=
ENST00000423902.6:c.8164A=	ENSP00000392028.1:p.Lys2722=
ENST00000524602.5:c.2017A=	ENSP00000437061.1:p.Lys673=
ENST00000528280.1:n.210A=
ENST00000532149.1:n.586A=
ENST00000618450.1:n.4200A=
NM_001316690.1:c.2017A=	NP_001303619.1:p.Lys673=
NM_017780.3:c.8164A=	NP_060250.2:p.Lys2722=
XM_011517553.1:c.8254A=	XP_011515855.1:p.Lys2752=
XM_011517554.1:c.8254A=	XP_011515856.1:p.Lys2752=
XM_011517555.1:c.8251A=	XP_011515857.1:p.Lys2751=
XM_011517556.1:c.8032A=	XP_011515858.1:p.Lys2678=
XM_011517557.1:c.6241A=	XP_011515859.1:p.Lys2081=
XM_011517558.1:c.5791A=	XP_011515860.1:p.Lys1931=
XM_011517559.1:c.4999A=	XP_011515861.1:p.Lys1667=
XM_011517553.2:c.8254A=	XP_011515855.1:p.Lys2752=
XM_011517554.3:c.8254A=	XP_011515856.1:p.Lys2752=
XM_011517555.2:c.8251A=	XP_011515857.1:p.Lys2751=
XM_017013612.1:c.8254A=	XP_016869101.1:p.Lys2752=
XM_017013613.1:c.8161A=	XP_016869102.1:p.Lys2721=
NM_017780.4:c.8164A= MANE Select	NP_060250.2:p.Lys2722=