Canonical Allele Identifier: CA1788112415

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856592C= , CM000670.2:g.60856592C=	GRCh38
NC_000008.10:g.61769151C= , CM000670.1:g.61769151C=	GRCh37
NC_000008.9:g.61931705C=	NCBI36
NG_007009.1:g.182813C= , LRG_176:g.182813C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017780.4:c.7312C= MANE Select	NP_060250.2:p.Gln2438=
ENST00000423902.7:c.7312C= MANE Select	ENSP00000392028.1:p.Gln2438=
NM_001316690.1:c.1717-5637C=	NP_001303619.1:n.1717-5637C=
NM_017780.3:c.7312C=	NP_060250.2:p.Gln2438=
ENST00000423902.6:c.7312C=	ENSP00000392028.1:p.Gln2438=
ENST00000524602.5:c.1717-5637C=	ENSP00000437061.1:n.1717-5637C=
ENST00000529472.1:n.493C=
ENST00000695850.1:n.488C=
ENST00000695853.1:c.*371C=	ENSP00000512218.1:n.*371C=
XM_011517553.1:c.7402C=	XP_011515855.1:p.Gln2468=
XM_011517553.2:c.7402C=	XP_011515855.1:p.Gln2468=
XM_011517554.1:c.7402C=	XP_011515856.1:p.Gln2468=
XM_011517554.3:c.7402C=	XP_011515856.1:p.Gln2468=
XM_011517555.1:c.7399C=	XP_011515857.1:p.Gln2467=
XM_011517555.2:c.7399C=	XP_011515857.1:p.Gln2467=
XM_011517556.1:c.7402C=	XP_011515858.1:p.Gln2468=
XM_011517557.1:c.5389C=	XP_011515859.1:p.Gln1797=
XM_011517558.1:c.4939C=	XP_011515860.1:p.Gln1647=
XM_011517559.1:c.4147C=	XP_011515861.1:p.Gln1383=
XM_017013612.1:c.7402C=	XP_016869101.1:p.Gln2468=
XM_017013613.1:c.7309C=	XP_016869102.1:p.Gln2437=