Canonical Allele Identifier: CA1788129194

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865116C= , CM000670.2:g.60865116C=	GRCh38
NC_000008.10:g.61777675C= , CM000670.1:g.61777675C=	GRCh37
NC_000008.9:g.61940229C=	NCBI36
NG_007009.1:g.191337C= , LRG_176:g.191337C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1353C=
ENST00000695852.1:n.284C=
ENST00000695853.1:c.*1236C=	ENSP00000512218.1:n.*1236C=
ENST00000423902.7:c.8177C= MANE Select	ENSP00000392028.1:p.Ala2726=
ENST00000423902.6:c.8177C=	ENSP00000392028.1:p.Ala2726=
ENST00000524602.5:c.2030C=	ENSP00000437061.1:p.Ala677=
ENST00000528280.1:n.223C=
ENST00000532149.1:n.599C=
ENST00000618450.1:n.4213C=
NM_001316690.1:c.2030C=	NP_001303619.1:p.Ala677=
NM_017780.3:c.8177C=	NP_060250.2:p.Ala2726=
XM_011517553.1:c.8267C=	XP_011515855.1:p.Ala2756=
XM_011517554.1:c.8267C=	XP_011515856.1:p.Ala2756=
XM_011517555.1:c.8264C=	XP_011515857.1:p.Ala2755=
XM_011517556.1:c.8045C=	XP_011515858.1:p.Ala2682=
XM_011517557.1:c.6254C=	XP_011515859.1:p.Ala2085=
XM_011517558.1:c.5804C=	XP_011515860.1:p.Ala1935=
XM_011517559.1:c.5012C=	XP_011515861.1:p.Ala1671=
XM_011517553.2:c.8267C=	XP_011515855.1:p.Ala2756=
XM_011517554.3:c.8267C=	XP_011515856.1:p.Ala2756=
XM_011517555.2:c.8264C=	XP_011515857.1:p.Ala2755=
XM_017013612.1:c.8267C=	XP_016869101.1:p.Ala2756=
XM_017013613.1:c.8174C=	XP_016869102.1:p.Ala2725=
NM_017780.4:c.8177C= MANE Select	NP_060250.2:p.Ala2726=