Canonical Allele Identifier: CA1788129691

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865266C= , CM000670.2:g.60865266C=	GRCh38
NC_000008.10:g.61777825C= , CM000670.1:g.61777825C=	GRCh37
NC_000008.9:g.61940379C=	NCBI36
NG_007009.1:g.191487C= , LRG_176:g.191487C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1503C=
ENST00000695852.1:n.434C=
ENST00000695853.1:c.*1386C=	ENSP00000512218.1:n.*1386C=
ENST00000423902.7:c.8327C= MANE Select	ENSP00000392028.1:p.Pro2776=
ENST00000423902.6:c.8327C=	ENSP00000392028.1:p.Pro2776=
ENST00000524602.5:c.2180C=	ENSP00000437061.1:p.Pro727=
ENST00000528280.1:n.373C=
NM_001316690.1:c.2180C=	NP_001303619.1:p.Pro727=
NM_017780.3:c.8327C=	NP_060250.2:p.Pro2776=
XM_011517553.1:c.8417C=	XP_011515855.1:p.Pro2806=
XM_011517554.1:c.8417C=	XP_011515856.1:p.Pro2806=
XM_011517555.1:c.8414C=	XP_011515857.1:p.Pro2805=
XM_011517556.1:c.8195C=	XP_011515858.1:p.Pro2732=
XM_011517557.1:c.6404C=	XP_011515859.1:p.Pro2135=
XM_011517558.1:c.5954C=	XP_011515860.1:p.Pro1985=
XM_011517559.1:c.5162C=	XP_011515861.1:p.Pro1721=
XM_011517553.2:c.8417C=	XP_011515855.1:p.Pro2806=
XM_011517554.3:c.8417C=	XP_011515856.1:p.Pro2806=
XM_011517555.2:c.8414C=	XP_011515857.1:p.Pro2805=
XM_017013612.1:c.8417C=	XP_016869101.1:p.Pro2806=
XM_017013613.1:c.8324C=	XP_016869102.1:p.Pro2775=
NM_017780.4:c.8327C= MANE Select	NP_060250.2:p.Pro2776=