Canonical Allele Identifier: CA460846404

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773495A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860936A>G , CM000670.2:g.60860936A>G	GRCh38
NC_000008.10:g.61773495A>G , CM000670.1:g.61773495A>G	GRCh37
NC_000008.9:g.61936049A>G	NCBI36
NG_007009.1:g.187157A>G , LRG_176:g.187157A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.817A>G
ENST00000695851.1:n.21A>G
ENST00000695853.1:c.*700A>G	ENSP00000512218.1:n.*700A>G
ENST00000423902.7:c.7641A>G MANE Select	ENSP00000392028.1:p.Glu2547=
ENST00000423902.6:c.7641A>G	ENSP00000392028.1:p.Glu2547=
ENST00000524602.5:c.1717-1293A>G	ENSP00000437061.1:n.1717-1293A>G
ENST00000531695.1:n.65A>G
ENST00000618450.1:n.33A>G
NM_001316690.1:c.1717-1293A>G	NP_001303619.1:n.1717-1293A>G
NM_017780.3:c.7641A>G	NP_060250.2:p.Glu2547=
XM_011517553.1:c.7731A>G	XP_011515855.1:p.Glu2577=
XM_011517554.1:c.7731A>G	XP_011515856.1:p.Glu2577=
XM_011517555.1:c.7728A>G	XP_011515857.1:p.Glu2576=
XM_011517556.1:c.7699-1260A>G	XP_011515858.1:n.7699-1260A>G
XM_011517557.1:c.5718A>G	XP_011515859.1:p.Glu1906=
XM_011517558.1:c.5268A>G	XP_011515860.1:p.Glu1756=
XM_011517559.1:c.4476A>G	XP_011515861.1:p.Glu1492=
XM_011517553.2:c.7731A>G	XP_011515855.1:p.Glu2577=
XM_011517554.3:c.7731A>G	XP_011515856.1:p.Glu2577=
XM_011517555.2:c.7728A>G	XP_011515857.1:p.Glu2576=
XM_017013612.1:c.7731A>G	XP_016869101.1:p.Glu2577=
XM_017013613.1:c.7638A>G	XP_016869102.1:p.Glu2546=
NM_017780.4:c.7641A>G MANE Select	NP_060250.2:p.Glu2547=