Canonical Allele Identifier: CA1788129158

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865106A= , CM000670.2:g.60865106A=	GRCh38
NC_000008.10:g.61777665A= , CM000670.1:g.61777665A=	GRCh37
NC_000008.9:g.61940219A=	NCBI36
NG_007009.1:g.191327A= , LRG_176:g.191327A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1343A=
ENST00000695852.1:n.274A=
ENST00000695853.1:c.*1226A=	ENSP00000512218.1:n.*1226A=
ENST00000423902.7:c.8167A= MANE Select	ENSP00000392028.1:p.Ser2723=
ENST00000423902.6:c.8167A=	ENSP00000392028.1:p.Ser2723=
ENST00000524602.5:c.2020A=	ENSP00000437061.1:p.Ser674=
ENST00000528280.1:n.213A=
ENST00000532149.1:n.589A=
ENST00000618450.1:n.4203A=
NM_001316690.1:c.2020A=	NP_001303619.1:p.Ser674=
NM_017780.3:c.8167A=	NP_060250.2:p.Ser2723=
XM_011517553.1:c.8257A=	XP_011515855.1:p.Ser2753=
XM_011517554.1:c.8257A=	XP_011515856.1:p.Ser2753=
XM_011517555.1:c.8254A=	XP_011515857.1:p.Ser2752=
XM_011517556.1:c.8035A=	XP_011515858.1:p.Ser2679=
XM_011517557.1:c.6244A=	XP_011515859.1:p.Ser2082=
XM_011517558.1:c.5794A=	XP_011515860.1:p.Ser1932=
XM_011517559.1:c.5002A=	XP_011515861.1:p.Ser1668=
XM_011517553.2:c.8257A=	XP_011515855.1:p.Ser2753=
XM_011517554.3:c.8257A=	XP_011515856.1:p.Ser2753=
XM_011517555.2:c.8254A=	XP_011515857.1:p.Ser2752=
XM_017013612.1:c.8257A=	XP_016869101.1:p.Ser2753=
XM_017013613.1:c.8164A=	XP_016869102.1:p.Ser2722=
NM_017780.4:c.8167A= MANE Select	NP_060250.2:p.Ser2723=