Canonical Allele Identifier: CA1788111805

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856452C= , CM000670.2:g.60856452C=	GRCh38
NC_000008.10:g.61769011C= , CM000670.1:g.61769011C=	GRCh37
NC_000008.9:g.61931565C=	NCBI36
NG_007009.1:g.182673C= , LRG_176:g.182673C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.348C=
ENST00000695853.1:c.*231C=	ENSP00000512218.1:n.*231C=
ENST00000423902.7:c.7172C= MANE Select	ENSP00000392028.1:p.Ala2391=
ENST00000423902.6:c.7172C=	ENSP00000392028.1:p.Ala2391=
ENST00000524602.5:c.1717-5777C=	ENSP00000437061.1:n.1717-5777C=
ENST00000529472.1:n.353C=
NM_001316690.1:c.1717-5777C=	NP_001303619.1:n.1717-5777C=
NM_017780.3:c.7172C=	NP_060250.2:p.Ala2391=
XM_011517553.1:c.7262C=	XP_011515855.1:p.Ala2421=
XM_011517554.1:c.7262C=	XP_011515856.1:p.Ala2421=
XM_011517555.1:c.7259C=	XP_011515857.1:p.Ala2420=
XM_011517556.1:c.7262C=	XP_011515858.1:p.Ala2421=
XM_011517557.1:c.5249C=	XP_011515859.1:p.Ala1750=
XM_011517558.1:c.4799C=	XP_011515860.1:p.Ala1600=
XM_011517559.1:c.4007C=	XP_011515861.1:p.Ala1336=
XM_011517553.2:c.7262C=	XP_011515855.1:p.Ala2421=
XM_011517554.3:c.7262C=	XP_011515856.1:p.Ala2421=
XM_011517555.2:c.7259C=	XP_011515857.1:p.Ala2420=
XM_017013612.1:c.7262C=	XP_016869101.1:p.Ala2421=
XM_017013613.1:c.7169C=	XP_016869102.1:p.Ala2390=
NM_017780.4:c.7172C= MANE Select	NP_060250.2:p.Ala2391=