Canonical Allele Identifier: CA1788111928

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856478C= , CM000670.2:g.60856478C=	GRCh38
NC_000008.10:g.61769037C= , CM000670.1:g.61769037C=	GRCh37
NC_000008.9:g.61931591C=	NCBI36
NG_007009.1:g.182699C= , LRG_176:g.182699C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.374C=
ENST00000695853.1:c.*257C=	ENSP00000512218.1:n.*257C=
ENST00000423902.7:c.7198C= MANE Select	ENSP00000392028.1:p.Arg2400=
ENST00000423902.6:c.7198C=	ENSP00000392028.1:p.Arg2400=
ENST00000524602.5:c.1717-5751C=	ENSP00000437061.1:n.1717-5751C=
ENST00000529472.1:n.379C=
NM_001316690.1:c.1717-5751C=	NP_001303619.1:n.1717-5751C=
NM_017780.3:c.7198C=	NP_060250.2:p.Arg2400=
XM_011517553.1:c.7288C=	XP_011515855.1:p.Arg2430=
XM_011517554.1:c.7288C=	XP_011515856.1:p.Arg2430=
XM_011517555.1:c.7285C=	XP_011515857.1:p.Arg2429=
XM_011517556.1:c.7288C=	XP_011515858.1:p.Arg2430=
XM_011517557.1:c.5275C=	XP_011515859.1:p.Arg1759=
XM_011517558.1:c.4825C=	XP_011515860.1:p.Arg1609=
XM_011517559.1:c.4033C=	XP_011515861.1:p.Arg1345=
XM_011517553.2:c.7288C=	XP_011515855.1:p.Arg2430=
XM_011517554.3:c.7288C=	XP_011515856.1:p.Arg2430=
XM_011517555.2:c.7285C=	XP_011515857.1:p.Arg2429=
XM_017013612.1:c.7288C=	XP_016869101.1:p.Arg2430=
XM_017013613.1:c.7195C=	XP_016869102.1:p.Arg2399=
NM_017780.4:c.7198C= MANE Select	NP_060250.2:p.Arg2400=