Canonical Allele Identifier: CA1788111812

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856457A= , CM000670.2:g.60856457A=	GRCh38
NC_000008.10:g.61769016A= , CM000670.1:g.61769016A=	GRCh37
NC_000008.9:g.61931570A=	NCBI36
NG_007009.1:g.182678A= , LRG_176:g.182678A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.353A=
ENST00000695853.1:c.*236A=	ENSP00000512218.1:n.*236A=
ENST00000423902.7:c.7177A= MANE Select	ENSP00000392028.1:p.Asn2393=
ENST00000423902.6:c.7177A=	ENSP00000392028.1:p.Asn2393=
ENST00000524602.5:c.1717-5772A=	ENSP00000437061.1:n.1717-5772A=
ENST00000529472.1:n.358A=
NM_001316690.1:c.1717-5772A=	NP_001303619.1:n.1717-5772A=
NM_017780.3:c.7177A=	NP_060250.2:p.Asn2393=
XM_011517553.1:c.7267A=	XP_011515855.1:p.Asn2423=
XM_011517554.1:c.7267A=	XP_011515856.1:p.Asn2423=
XM_011517555.1:c.7264A=	XP_011515857.1:p.Asn2422=
XM_011517556.1:c.7267A=	XP_011515858.1:p.Asn2423=
XM_011517557.1:c.5254A=	XP_011515859.1:p.Asn1752=
XM_011517558.1:c.4804A=	XP_011515860.1:p.Asn1602=
XM_011517559.1:c.4012A=	XP_011515861.1:p.Asn1338=
XM_011517553.2:c.7267A=	XP_011515855.1:p.Asn2423=
XM_011517554.3:c.7267A=	XP_011515856.1:p.Asn2423=
XM_011517555.2:c.7264A=	XP_011515857.1:p.Asn2422=
XM_017013612.1:c.7267A=	XP_016869101.1:p.Asn2423=
XM_017013613.1:c.7174A=	XP_016869102.1:p.Asn2392=
NM_017780.4:c.7177A= MANE Select	NP_060250.2:p.Asn2393=