Canonical Allele Identifier: CA1788129284

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865138T= , CM000670.2:g.60865138T=	GRCh38
NC_000008.10:g.61777697T= , CM000670.1:g.61777697T=	GRCh37
NC_000008.9:g.61940251T=	NCBI36
NG_007009.1:g.191359T= , LRG_176:g.191359T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1375T=
ENST00000695852.1:n.306T=
ENST00000695853.1:c.*1258T=	ENSP00000512218.1:n.*1258T=
ENST00000423902.7:c.8199T= MANE Select	ENSP00000392028.1:p.Ala2733=
ENST00000423902.6:c.8199T=	ENSP00000392028.1:p.Ala2733=
ENST00000524602.5:c.2052T=	ENSP00000437061.1:p.Ala684=
ENST00000528280.1:n.245T=
NM_001316690.1:c.2052T=	NP_001303619.1:p.Ala684=
NM_017780.3:c.8199T=	NP_060250.2:p.Ala2733=
XM_011517553.1:c.8289T=	XP_011515855.1:p.Ala2763=
XM_011517554.1:c.8289T=	XP_011515856.1:p.Ala2763=
XM_011517555.1:c.8286T=	XP_011515857.1:p.Ala2762=
XM_011517556.1:c.8067T=	XP_011515858.1:p.Ala2689=
XM_011517557.1:c.6276T=	XP_011515859.1:p.Ala2092=
XM_011517558.1:c.5826T=	XP_011515860.1:p.Ala1942=
XM_011517559.1:c.5034T=	XP_011515861.1:p.Ala1678=
XM_011517553.2:c.8289T=	XP_011515855.1:p.Ala2763=
XM_011517554.3:c.8289T=	XP_011515856.1:p.Ala2763=
XM_011517555.2:c.8286T=	XP_011515857.1:p.Ala2762=
XM_017013612.1:c.8289T=	XP_016869101.1:p.Ala2763=
XM_017013613.1:c.8196T=	XP_016869102.1:p.Ala2732=
NM_017780.4:c.8199T= MANE Select	NP_060250.2:p.Ala2733=