Canonical Allele Identifier: CA1788113290

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60801594G= , CM000670.2:g.60801594G=	GRCh38
NC_000008.10:g.61714153G= , CM000670.1:g.61714153G=	GRCh37
NC_000008.9:g.61876707G=	NCBI36
NG_007009.1:g.127815G= , LRG_176:g.127815G=

Transcript Alleles

HGVS	Amino-acid Change
NM_017780.4:c.2442+1G= MANE Select	NP_060250.2:n.2442+1G=
ENST00000423902.7:c.2442+1G= MANE Select	ENSP00000392028.1:n.2442+1G=
NM_001316690.1:c.1716+20544G=	NP_001303619.1:n.1716+20544G=
NM_017780.3:c.2442+1G=	NP_060250.2:n.2442+1G=
ENST00000423902.6:c.2442+1G=	ENSP00000392028.1:n.2442+1G=
ENST00000524602.5:c.1716+20544G=	ENSP00000437061.1:n.1716+20544G=
ENST00000525508.1:c.2442+1G=	ENSP00000436027.1:n.2442+1G=
ENST00000695848.1:n.2955+1G=
ENST00000695849.1:n.2955+1G=
ENST00000695853.1:c.2442+1G=	ENSP00000512218.1:n.2442+1G=
XM_011517553.1:c.2442+1G=	XP_011515855.1:n.2442+1G=
XM_011517553.2:c.2442+1G=	XP_011515855.1:n.2442+1G=
XM_011517554.1:c.2442+1G=	XP_011515856.1:n.2442+1G=
XM_011517554.3:c.2442+1G=	XP_011515856.1:n.2442+1G=
XM_011517555.1:c.2442+1G=	XP_011515857.1:n.2442+1G=
XM_011517555.2:c.2442+1G=	XP_011515857.1:n.2442+1G=
XM_011517556.1:c.2442+1G=	XP_011515858.1:n.2442+1G=
XM_011517557.1:c.429+1G=	XP_011515859.1:n.429+1G=
XM_011517560.1:c.2442+1G=	XP_011515862.1:n.2442+1G=
XM_011517560.2:c.2442+1G=	XP_011515862.1:n.2442+1G=
XM_017013612.1:c.2442+1G=	XP_016869101.1:n.2442+1G=
XM_017013613.1:c.2442+1G=	XP_016869102.1:n.2442+1G=
XR_928948.1:n.201-2336C=