Canonical Allele Identifier: CA1788102848

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852927G= , CM000670.2:g.60852927G=	GRCh38
NC_000008.10:g.61765486G= , CM000670.1:g.61765486G=	GRCh37
NC_000008.9:g.61928040G=	NCBI36
NG_007009.1:g.179148G= , LRG_176:g.179148G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6202G=	ENSP00000512218.1:p.Val2068=
ENST00000423902.7:c.6202G= MANE Select	ENSP00000392028.1:p.Val2068=
ENST00000423902.6:c.6202G=	ENSP00000392028.1:p.Val2068=
ENST00000524602.5:c.1717-9302G=	ENSP00000437061.1:n.1717-9302G=
NM_001316690.1:c.1717-9302G=	NP_001303619.1:n.1717-9302G=
NM_017780.3:c.6202G=	NP_060250.2:p.Val2068=
XM_011517553.1:c.6292G=	XP_011515855.1:p.Val2098=
XM_011517554.1:c.6292G=	XP_011515856.1:p.Val2098=
XM_011517555.1:c.6292G=	XP_011515857.1:p.Val2098=
XM_011517556.1:c.6292G=	XP_011515858.1:p.Val2098=
XM_011517557.1:c.4279G=	XP_011515859.1:p.Val1427=
XM_011517558.1:c.3829G=	XP_011515860.1:p.Val1277=
XM_011517559.1:c.3037G=	XP_011515861.1:p.Val1013=
XM_011517553.2:c.6292G=	XP_011515855.1:p.Val2098=
XM_011517554.3:c.6292G=	XP_011515856.1:p.Val2098=
XM_011517555.2:c.6292G=	XP_011515857.1:p.Val2098=
XM_017013612.1:c.6292G=	XP_016869101.1:p.Val2098=
XM_017013613.1:c.6202G=	XP_016869102.1:p.Val2068=
NM_017780.4:c.6202G= MANE Select	NP_060250.2:p.Val2068=