Canonical Allele Identifier: CA1788129679

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865261C= , CM000670.2:g.60865261C=	GRCh38
NC_000008.10:g.61777820C= , CM000670.1:g.61777820C=	GRCh37
NC_000008.9:g.61940374C=	NCBI36
NG_007009.1:g.191482C= , LRG_176:g.191482C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1498C=
ENST00000695852.1:n.429C=
ENST00000695853.1:c.*1381C=	ENSP00000512218.1:n.*1381C=
ENST00000423902.7:c.8322C= MANE Select	ENSP00000392028.1:p.Gly2774=
ENST00000423902.6:c.8322C=	ENSP00000392028.1:p.Gly2774=
ENST00000524602.5:c.2175C=	ENSP00000437061.1:p.Gly725=
ENST00000528280.1:n.368C=
NM_001316690.1:c.2175C=	NP_001303619.1:p.Gly725=
NM_017780.3:c.8322C=	NP_060250.2:p.Gly2774=
XM_011517553.1:c.8412C=	XP_011515855.1:p.Gly2804=
XM_011517554.1:c.8412C=	XP_011515856.1:p.Gly2804=
XM_011517555.1:c.8409C=	XP_011515857.1:p.Gly2803=
XM_011517556.1:c.8190C=	XP_011515858.1:p.Gly2730=
XM_011517557.1:c.6399C=	XP_011515859.1:p.Gly2133=
XM_011517558.1:c.5949C=	XP_011515860.1:p.Gly1983=
XM_011517559.1:c.5157C=	XP_011515861.1:p.Gly1719=
XM_011517553.2:c.8412C=	XP_011515855.1:p.Gly2804=
XM_011517554.3:c.8412C=	XP_011515856.1:p.Gly2804=
XM_011517555.2:c.8409C=	XP_011515857.1:p.Gly2803=
XM_017013612.1:c.8412C=	XP_016869101.1:p.Gly2804=
XM_017013613.1:c.8319C=	XP_016869102.1:p.Gly2773=
NM_017780.4:c.8322C= MANE Select	NP_060250.2:p.Gly2774=