Canonical Allele Identifier: CA1788103188

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853001G= , CM000670.2:g.60853001G=	GRCh38
NC_000008.10:g.61765560G= , CM000670.1:g.61765560G=	GRCh37
NC_000008.9:g.61928114G=	NCBI36
NG_007009.1:g.179222G= , LRG_176:g.179222G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6276G=	ENSP00000512218.1:p.Glu2092=
ENST00000423902.7:c.6276G= MANE Select	ENSP00000392028.1:p.Glu2092=
ENST00000423902.6:c.6276G=	ENSP00000392028.1:p.Glu2092=
ENST00000524602.5:c.1717-9228G=	ENSP00000437061.1:n.1717-9228G=
NM_001316690.1:c.1717-9228G=	NP_001303619.1:n.1717-9228G=
NM_017780.3:c.6276G=	NP_060250.2:p.Glu2092=
XM_011517553.1:c.6366G=	XP_011515855.1:p.Glu2122=
XM_011517554.1:c.6366G=	XP_011515856.1:p.Glu2122=
XM_011517555.1:c.6366G=	XP_011515857.1:p.Glu2122=
XM_011517556.1:c.6366G=	XP_011515858.1:p.Glu2122=
XM_011517557.1:c.4353G=	XP_011515859.1:p.Glu1451=
XM_011517558.1:c.3903G=	XP_011515860.1:p.Glu1301=
XM_011517559.1:c.3111G=	XP_011515861.1:p.Glu1037=
XM_011517553.2:c.6366G=	XP_011515855.1:p.Glu2122=
XM_011517554.3:c.6366G=	XP_011515856.1:p.Glu2122=
XM_011517555.2:c.6366G=	XP_011515857.1:p.Glu2122=
XM_017013612.1:c.6366G=	XP_016869101.1:p.Glu2122=
XM_017013613.1:c.6276G=	XP_016869102.1:p.Glu2092=
NM_017780.4:c.6276G= MANE Select	NP_060250.2:p.Glu2092=