Canonical Allele Identifier: CA1788129349

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865167C= , CM000670.2:g.60865167C=	GRCh38
NC_000008.10:g.61777726C= , CM000670.1:g.61777726C=	GRCh37
NC_000008.9:g.61940280C=	NCBI36
NG_007009.1:g.191388C= , LRG_176:g.191388C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1404C=
ENST00000695852.1:n.335C=
ENST00000695853.1:c.*1287C=	ENSP00000512218.1:n.*1287C=
ENST00000423902.7:c.8228C= MANE Select	ENSP00000392028.1:p.Pro2743=
ENST00000423902.6:c.8228C=	ENSP00000392028.1:p.Pro2743=
ENST00000524602.5:c.2081C=	ENSP00000437061.1:p.Pro694=
ENST00000528280.1:n.274C=
NM_001316690.1:c.2081C=	NP_001303619.1:p.Pro694=
NM_017780.3:c.8228C=	NP_060250.2:p.Pro2743=
XM_011517553.1:c.8318C=	XP_011515855.1:p.Pro2773=
XM_011517554.1:c.8318C=	XP_011515856.1:p.Pro2773=
XM_011517555.1:c.8315C=	XP_011515857.1:p.Pro2772=
XM_011517556.1:c.8096C=	XP_011515858.1:p.Pro2699=
XM_011517557.1:c.6305C=	XP_011515859.1:p.Pro2102=
XM_011517558.1:c.5855C=	XP_011515860.1:p.Pro1952=
XM_011517559.1:c.5063C=	XP_011515861.1:p.Pro1688=
XM_011517553.2:c.8318C=	XP_011515855.1:p.Pro2773=
XM_011517554.3:c.8318C=	XP_011515856.1:p.Pro2773=
XM_011517555.2:c.8315C=	XP_011515857.1:p.Pro2772=
XM_017013612.1:c.8318C=	XP_016869101.1:p.Pro2773=
XM_017013613.1:c.8225C=	XP_016869102.1:p.Pro2742=
NM_017780.4:c.8228C= MANE Select	NP_060250.2:p.Pro2743=