Canonical Allele Identifier: CA1788111953

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856481A= , CM000670.2:g.60856481A=	GRCh38
NC_000008.10:g.61769040A= , CM000670.1:g.61769040A=	GRCh37
NC_000008.9:g.61931594A=	NCBI36
NG_007009.1:g.182702A= , LRG_176:g.182702A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.377A=
ENST00000695853.1:c.*260A=	ENSP00000512218.1:n.*260A=
ENST00000423902.7:c.7201A= MANE Select	ENSP00000392028.1:p.Arg2401=
ENST00000423902.6:c.7201A=	ENSP00000392028.1:p.Arg2401=
ENST00000524602.5:c.1717-5748A=	ENSP00000437061.1:n.1717-5748A=
ENST00000529472.1:n.382A=
NM_001316690.1:c.1717-5748A=	NP_001303619.1:n.1717-5748A=
NM_017780.3:c.7201A=	NP_060250.2:p.Arg2401=
XM_011517553.1:c.7291A=	XP_011515855.1:p.Arg2431=
XM_011517554.1:c.7291A=	XP_011515856.1:p.Arg2431=
XM_011517555.1:c.7288A=	XP_011515857.1:p.Arg2430=
XM_011517556.1:c.7291A=	XP_011515858.1:p.Arg2431=
XM_011517557.1:c.5278A=	XP_011515859.1:p.Arg1760=
XM_011517558.1:c.4828A=	XP_011515860.1:p.Arg1610=
XM_011517559.1:c.4036A=	XP_011515861.1:p.Arg1346=
XM_011517553.2:c.7291A=	XP_011515855.1:p.Arg2431=
XM_011517554.3:c.7291A=	XP_011515856.1:p.Arg2431=
XM_011517555.2:c.7288A=	XP_011515857.1:p.Arg2430=
XM_017013612.1:c.7291A=	XP_016869101.1:p.Arg2431=
XM_017013613.1:c.7198A=	XP_016869102.1:p.Arg2400=
NM_017780.4:c.7201A= MANE Select	NP_060250.2:p.Arg2401=